Barbara Więckowska

Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM)

BackgroundPolydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial polydactyly. The etiology of sporadic PPD1 remains largely unknown and the relative contribution of genetic and environmental factors is not clearly defined. The primary goals of this study are twofold: (1) to examine the epidemiology and clinical features of sporadic PPD1 in comparison to a healthy control group, and (2) to contrast the characteristics of sporadic PPD1 with familial forms of isolated polydactyly.MethodsAmong 2,530,349 live births registered in the Polish Registry of Congenital Malformations (PRCM), we identified 459 children with isolated sporadic PPD1 and 353 children with familial polydactyly, including 57 children with familial PPD1.ResultsIn comparison with the matched group of 303 controls, sporadic PPD1 cases had significantly lower birth order (P = 0.01) and birthweight (P < 0.0001). Similarly, when compared to familial cases of polydactyly, lower birth order (P = 0.047) and lower birthweight (P < 0.0001) were characteristic of sporadic PPD1 cases. Moreover, our analyses suggested several additional risk factors for sporadic PPD1, including lower paternal education levels (P = 0.01), upper respiratory tract infections during the first trimester of pregnancy (P = 0.049), and maternal history of epilepsy (P = 0.01).ConclusionsIn summary, our study provides support to the hypothesis that non-genetic factors play an important role in the etiology of non-familiar PPD1.

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.

Soluble Toll-Like Receptors 2 and 4 in Cerebrospinal Fluid of Patients with Acute Hydrocephalus following Aneurysmal Subarachnoid Haemorrhage.

Background Toll-like receptor (TLR) signalling begins early in subarachnoid haemorrhage (SAH), and plays a key role in inflammation following cerebral aneurysm rupture. Available studies suggest significance of endogenous first-line blockers of a TLR pathway—soluble TLR2 and 4. Methods Eighteen patients with SAH and acute hydrocephalus underwent endovascular coiling and ventriculostomy; sTLR2 and 4 levels were assayed in cerebrospinal fluid (CSF) collected on post-SAH days 0–3, 5, and 10–12. Release kinetics were defined. CSF levels of sTLR2 and 4 were compared with a control group and correlated with the clinical status on admission, the findings on imaging, the degree of systemic inflammation and the outcome following treatment. Results None of study group showed detectable levels of sTLR2 and 4 on post-SAH day 0–3. 13 patients showed increased levels in subsequent samples. In five SAH patients sTLR2 and 4 levels remained undetectable; no distinctive features of this group were found. On post-SAH day 5 the strongest correlation was found between sTLR2 level and haemoglobin level on admission (cc = -0.498, P = 0.037). On post-SAH day 10–12 the strongest correlation was revealed between sTLR2 and treatment outcome (cc = -0.501, P = 0.076). Remaining correlations with treatment outcome, status at admission, imaging findings and inflammatory markers on post-SAH day 5 and 10–12 were negligible or low (-0.5 ≤ cc ≤ 0.5). Conclusions In the majority of cases, rupture of a cerebral aneurysm leads to delayed release of soluble TLR forms into CSF. sTLR2 and 4 seem to have minor role in human post-SAH inflammation due to delayed release kinetics and low levels of these protein.

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM).

OBJECTIVES The aims of this study were: to evaluate the prevalence of abdominal wall defects in the Polish population, to analyze temporal trends in the prevalence, to identify areas (clusters) of high risk of abdominal wall defects, and to characterize, with respect to epidemiology, children with abdominal wall defects and their mothers in the area defined as a cluster. MATERIAL AND METHODS We used isolated congenital malformations (gastroschisis Q79.3 and omphalocele Q79.2 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10, the extended version)) data reported to the Polish Registry of Congenital Malformations (PRCM) over the years 1998- 2008 based on the population of 2 362 502 live births. We analyzed 11 administrative regions of Poland with complete epidemiologic data. RESULTS Of 11 regions, 2 had a significantly higher standardized prevalence of isolated gastroschisis: Dolnośląskie (1.7/10 000 live births, p = 0.0052) and Śląskie (1.9/10 000 live births, p < 0.0001). Furthermore, within the region of Dolnośląskie, we defined a clear prevalence of the isolated gastroschisis cluster (p = 0.023). We comprehensively examined demographic and socio-economic risk factors for abdominal wall defects in this area, and we found that these factors failed to account for the cluster. CONCLUSIONS We identified a distinct prevalence cluster for isolated gastroschisis, although a precise reason for the disease clustering in this region remains unknown. Cluster identification enables more focused research aimed at identification of specific factors with teratogenic effects.

Comparison of antioxidative properties of raw vegetables and thermally processed ones using the conventional and sous-vide methods

The study determines the antioxidant properties of methanol vegetable extracts from raw vegetables, conventionally cooked vegetables and sous-vide. In the research, two methods were used: free radical scavenging DPPH (µM Trolox) and the reduction of Fe3+to Fe2+ - FRAP (µM Fe2+). Antioxidative properties for raw vegetables were obtained with the range of 7.47-235 (µM Trolox/100g of vegetables) and 2.66-103 (µM Fe2+/100g of vegetables), for vegetables after the conventional cooking process 6.15-657 (µM Trolox/100g of vegetables) and 3.03-99.9 (µM Fe2+/100g of vegetables), for vegetables after the sous-vide process 4.45-648 (µM Trolox/100g of vegetables) and 3.06-99.9 (µM Fe2+/100g of vegetables). For some vegetables, an increase in the antioxidative potential was observed as a result of cooking processes; however, it was much higher for the sous-vide technique. All results were subjected to a one-way analysis of variance (ANOVA) and, if significant differences were revealed, the POST-HOC Duncan test was used (α=0.05).

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

INTRODUCTION AND OBJECTIVES It is difficult to identify the environmental factors which together influence the occurrence of congenital malformations. It could be helpful to define the geographic location of the areas with an increased prevalence of such malformations. The aim of this study is to define if there are regions in Poland where the prevalence of isolated cleft lip, with or without a cleft palate (CL±P), is increased, and to present a method for searching for such areas. MATERIALS AND METHODS The analysis included the whole area of Poland monitored in 2007-2008 by the Polish Register of Congenital Malformations (PRCM). The area was divided into 3,045 census regions. The number of children with CL±P in those years was 514, and the size of the reference population (live births) was 802,372. Two methods were used for the detection of clusters with an increased prevalence of isolated CL±P: the LISA analysis and Kulldorffs scan statistic, and described in detail. RESULTS The prevalence of isolated CL±P and the smoothed prevalence were calculated for every community. The results of the LISA and Kulldorffs analyses were consistent. Both methods located the sites with an increased prevalence of isolated CL±P. The lack of statistical significance of clusters indicated by Kulldorffs statistic, and the significance of clusters detected with the use of the LISA method, indicated the existence of clusters with an only slightly increased prevalence of isolated CL±P. CONCLUSIONS The study shows the usefulness of the LISA and Kulldorffs spatial analyses in epidemiological studies, including the etiology of congenital malformations. Because the two methods work in different ways, good results can be obtained when they are used together.

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland.

Background: Geographic variation in the prevalence of isolated cleft lip with or without cleft palate may be due to exogenous environmental factors or genetic variation. In this study, we aim to evaluate the prevalence of isolated cleft lip with or without cleft palate in Polish urban and rural environments in order to identify geographic areas with high prevalence (defect clusters). Methods: We use all cases of congenital malformations reported to the Polish Registry of Congenital Malformations in the years 1998–2008 from the total population of 2,362,502 births. Results: We detect a strong signal of increased prevalence of isolated cleft lip with or without cleft palate in a single region of Poland, the Dolnośląskie voivodeship. Furthermore, we demonstrate a statistically significant prevalence differences between the urban and rural areas within this region. Through our comprehensive spatiotemporal analysis, we precisely define the cluster of the highest risk that comprises the eastern part of this voivodeship.

Predicting mortality in subarachnoid haemorrhage based on first-week routine blood tests

Accurate prognosis of outcome in subarachnoid haemorrhage (SAH) identifies salvageable poor-grade patients. Widely available and independent prognostic factors are needed, thus value of six routine blood tests is established. Prospectively collected database of 116 aneurysmal SAH patients was reviewed for white blood cell (WBC) count and concentration of C-reactive protein (CRP), sodium, potassium, glucose and haemoglobin on day 0, 1, 2, 3-4 and 5-7 post-SAH. All patients were admitted within 24 h, treated endovascularly within 48 h and assessed neurologically at admission and at three months post-SAH. Multivariate logistic regression and receiver operating curve were analyzed for each type of parameter assessed on specific day post-SAH. We have identified three different types of blood tests with the largest area under the curve (AUC). The three types of parameters identified as the most accurate, independent prognostic factors for mortality are WBC count on day 1 (p < 0.01 with AUC of 0.82); sodium level on day 2 (p < 0.05 with AUC of 0.81) and CRP level on day 3-4 (p < 0.05 with AUC of 0.74). Cut-off values of 12.88 × 103/µl, 155 mmol/l and 142.7 mg/l (respectively) exceeded on indicated time points predict patients death with 96.7% specificity and 68.8% sensitivity. Early alterations in routine blood tests provide an accurate prognosis of death in SAH independently from well-established prognostic tools.

Amino Acids in Cerebrospinal Fluid of Patients with Aneurysmal Subarachnoid Haemorrhage: An Observational Study

Background The authors are aware of only one article investigating amino acid concentrations in cerebrospinal fluid (CSF) in patients with ruptured intracranial aneurysms, and this was published 31 years ago. Since then, both management of subarachnoid haemorrhage (SAH) and amino acid assay techniques have seen radical alterations, yet the pathophysiology of SAH remains unclear. Objective To analyse the pattern of concentrations of amino acids and related compounds in patients with different outcomes following aneurysmal SAH. Methods 49 CSF samples were collected from 23 patients on days 0–3, 5, and 10 post-SAH. Concentrations of 33 amino acids and related compounds were assayed by liquid chromatography tandem mass spectrometry in patients with good [Glasgow Outcome Scale (GOS) 1–3] and poor (GOS 4–5) outcome. Results Of the 33 compounds assayed, only hydroxyproline and 3-aminoisobutyric acid appeared not to increase significantly following SAH. In poor outcome patients, we found significantly higher concentrations of aspartic acid (p = 0.038), glutamic acid (p = 0.038), and seven other compounds on days 0–3 post-SAH; glutamic acid (p = 0.041) on day 5 post-SAH, and 2-aminoadipic acid (p = 0.033) on day 10 post-SAH. The most significant correlation with GOS at 3 months was found for aminoadipic acid on day 10 post-SAH (cc = −0.81). Conclusion Aneurysmal rupture leads to a generalised increase of amino acids and related compounds in CSF. The patterns differ between good and poor outcome cases. Increased excitatory amino acids are strongly indicative of poor outcome.

Effect of increased protein intake on the risk of female infertility

Introduction An unbalanced diet and consumption of nutritionally inadequate food may contribute to disease and health disorders. 1 The lit erature also suggests that the nutritional quality of food, including the amount and type of proteins consumed, may impact female fertility. 2,3 It is possible because the cells present in the ovaries contain insulin-like growth factor-1 (IGF-1) receptors. The IGF-1 level is correlated, among others, with the protein intake. 3-5 Based on these premises, we used epidemiological and clinical data to determine the effect of protein intake on the po tential risk of infertility in women. Patients and methods The study was conducted on a group of 100 women aged 20 to 40 years, who were patients at the Gynaecology and Obstetrics Clinical Hospital of the Poznan University of Medical Sciences, Poznan, Poland. We used simple random sampling (dependant) to ensure research integrity. Participants were divided into 2 groups: group A, including women with infertility disorders (diagnosed by a gynecologist), receiving no pharmacological infertility treatment, and wishing to become pregnant; and group B, including women with no infertility disorders, with no natural or induced miscarriages in history, with successful pregnancies in the past, and wishing to become pregnant.