Children's Memorial Health Institute Research Articles

Analiza wskazań do biopsji wątroby u dzieci w doświadczeniu referencyjnego ośrodka hepatologii dziecięcej

Histopathological examination of the liver is used to diagnose, stage, prognose and monitore many liver diseases. Indications to the liver biopsy in children may vary. Percutaneous and surgical biopsies are the most frequently performed procedures in native or in transplanted liver, in explanted and partially resected organs. The aim of this study is to review all of histopathological liver examinations performed in Children's Memorial Health Institute (the main centre of pediatric hepatology in Poland) with division of biopsy types and indications in various age groups. MethodsThe retrospective analysis of biopsies examined in Department of Pathology in 2014 regarding methods of the procedures, indications and age of patients was made. ResultsIn 266 patients, 317 tests were performed. In older children (≥ 6 years old, 154), biopsy was used mostly (55.8%) under diagnosis of hepatitis – the most common indication being autoimmune hepatitis (36%). In children <12 months (47), liver biopsy was necessary in 53.6% cases to determine the cause of cholestasis. ConclusionsLiver biopsy in children is a common procedure in hepatology. Indications to biopsy vary in particular age groups, the most common being autoimmune hepatitis in older children, focal lesions, indications after liver transplantation and suspicion of biliary atresia (diagnosis of cholestasis) in young infants.

Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center.

IntroductionRespiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA individuals.Material and methodsOf 1563 patients with primary immunodeficiencies diagnosed in the Department of Immunology, the Children’s Memorial Health Institute (CMHI), 66 boys had a provisional diagnosis of agammaglobulinemia. Forty-four subjects fulfilled definitive ESID (European Society for Immunodeficiencies) diagnostic criteria of XLA. A retrospective analysis of medical history of XLA patients was undertaken.ResultsRecurrent respiratory tract infections, particularly bronchitis (73%) and pneumonia (59%), were the most common symptoms of XLA. The GI disorders constituted the next main manifestation (63.6%), followed by upper respiratory tract infections. Twenty-six of 28 XLA patients with GI disorders complained of diarrhea, which was resolved generally after immunoglobulin therapy introduction. Single but prolonged episodes of Campylobacter jejuni diarrhea were reported in two individuals. Inflammatory bowel disease of mild to moderate activity was diagnosed in 1 patient, and local enteritis of mild activity in another one.ConclusionsGastrointestinal disorders were one of the main manifestations of XLA, reported almost as often as lower respiratory tract infections. The most common GI symptom was diarrhea, which usually resolved after immunoglobulin therapy was started. Infections caused by Giardia lamblia were reported occasionally. Inflammatory bowel disease was diagnosed quite exceptionally, which presumably may be connected with normal T cell immunity.

Reclassification of C4d-Positive Endomyocardial Biopsy (EMB) According to New International Society for Heart and Lung Transplantation (ISHLT) 2013 Categories for Reporting Pathologic Antibody-Mediated Rejection (pAMR): Preliminary Data from a Polish Single-Center Study.

The International Society for Heart and Lung Transplantation (ISHLT) has recently proposed a new protocol for reporting pathologic diagnosis of antibody-mediated rejection (pAMR). The new criteria precisely defined antibody panels and morphologic features indicative of AMR. The aim of this study was to reclassify endomyocardial biopsy specimens (EMBs) that had previously been classified as C4d-positive (AMR1) according to the former ISHLT 2004 protocol and to verify whether the new, stricter criteria have any impact on number of AMR diagnosis. We retrospectively analyzed 1374 EMBs from 212 patients who underwent heart transplantation in the years 2001-2013 and who were diagnosed at the Department of Pathology, The Children's Memorial Health Institute. Recorded data were: histopathologic features indicative of AMR (endothelial swelling, interstitial edema, intracapillary macrophages and leucocytes); C4d stain patterns, and presence of cellular rejection (ACR) or Quilty effect in any biopsy. All EMBs were reevaluated according to new ISHLT 2013 criteria and pAMR was specified. There were 77 EMBs from 46 (21.69%) patients that were initially diagnosed as AMR1 based on any C4d-positive stain. After reclassification according to ISHLT 2013: 22 (28.57%) EMBs were evaluated as pAMR 1(H+); 14 (18.18%) EMBs were pAMR 1(I+); 13 (16.88%) EMBs were pAMR 2, and 28 (36.36%) EMBs were pAMR0. Endothelial swelling was observed in 45 (58.44%) EMBs; interstitial edema in 32 (41.55%) EMBs, and intracapillary activated mononuclear cells in 26 (33.77%) EMBs. Then, all 1374 EMBs from 212 patients were reclassified and we noticed that pAMR1H+ was found in 95 (44.81%) patients; pAMR1I+ in 12 (5.66%) patients; pAMR2 in 8 (3.77%) patients; pAMR0 in 95 (45.75%) in patients, and pAMR3 was not present. New, more restrictive ISHLT 2013 criteria for reporting pathologic antibody-mediated rejection (pAMR) decrease number of AMR diagnosis in a selected Polish population, but they increase number of silent/sub-silent AMR diagnoses.

Autoimmune markers in children with chronic pancreatitis.

IntroductionIn the last decade we can observe a gradual increase in the incidence of autoimmune diseases. The aetiology of chronic pancreatitis (CP) in children is varied and includes gene mutations, anatomic anomalies and others. The reported paediatric experience with chronic CP is scarce and little is known about the role of autoimmune pancreatitis (AIP).AimTo assess the frequency of autoimmune markers in children with CP.Material and methodsOne hundred and twenty-nine children hospitalised between 2005 and 2012 at the Department of Gastroenterology, The Children's Memorial Health Institute, were examined for the presence of AIP; the level of IgG4 was determined, and tests for anti-tissue antibodies (ANA, ASMA, AMA, ANCA, AHA) were conducted. Clinical data were recorded and analysed.ResultsAnti-tissue antibodies were detected in 75/129 children (58%), and 24/68 patients (35.3%) showed an increased IgG4 level. Based on the International Association of Pancreatology criteria, a suspicion of AIP was raised in 6 patients (4.6%). We found gene mutations predisposing to CP in 32/75 (42.6%) patients with autoimmune markers. In 16/75 children (21.3%), anatomic anomalies were found. There was no difference in the severity of the disease and clinical course between children with evidence of autoimmune process and patients without autoimmune markers (p = NS).ConclusionsIn children with CP, similarly to adults, there is a high frequency of biochemical markers of autoimmunity. It is worth remembering that AIP can occur in children.

MTOR Inhibition and Tuberous Sclerosis Prevention

Investigators at Children's Memorial Health Institute, Warsaw, Poland, report monozygotic twin sisters with tuberous sclerosis complex (TSC), one treated with the mTOR inhibitor everolimus since age 4 years.

P261 Determination of faecal haemoglobin is equally effective as faecal calprotectin in identifying inflammatory bowel disease patients with active endoscopic inflammation

Background: Faecal calprotectin is a non-invasive tool to asses colonic inflammation in patients with inflammatory bowel disease (IBD). However, the diagnostic accuracy of calprotectin is modest and analysis is relatively costly and therefore additional markers are needed. We compared the efficacy of faecal haemoglobin and calprotectin in the prediction of active endoscopic inflammation in IBD patients. Methods: Consecutive patients with either Crohn’s colitis (CD) or ulcerative colitis (UC) scheduled for surveillance colonoscopy collected a stool sample prior to the start of bowel preparation. Three experienced endoscopists assessed the presence of active inflammation in each colonic segment. Stool samples were analyzed for calprotectin and haemoglobin, both with a Ridascreen® enzyme-linked immunosorbent assay (R-Biopharm, Germany) and were analyzed without reference to colonoscopy findings and vice versa. ROC statistics were used to determine cutoff values for calprotectin and haemoglobin. Results: A total of 119 patients were included, of which 54 patients had CD, 59 had UC and 6 indeterminate colitis. Median (interquartile range [IQR]) calprotectin and haemoglobin concentrations were 118 mg/g (IQR 31 367) and 0.48 mg/g (IQR 0.27 5.73) respectively. Active inflammation was encountered in 43 patients (36%) (5 severe, 9 moderate and 29 mild). Calprotectin and haemoglobin levels were significantly higher in patients with active inflammation compared to patients with no inflammation [451mg/g vs 52mg/g, p < 0.01 and 10.34mg/g vs 0.34mg/g, p < 0.01 respectively (Mann Whitney U test)]. A cutoff value of 172mg/g for calprotectin predicted endoscopic inflammation with 79% sensitivity, 80% specificity, 69% positive predictive value and 87% negative predictive value. The predictive accuracy of calprotectin (area under the curve [AUC]) was 0.88 which was similar for patients with CD and UC (AUC 0.86 and 0.86 respectively). For haemoglobin, a cutoff value of 1.45mg/g indicated endoscopic inflammation with 77% sensitivity, 88% specificity, 79% positive predictive value and 87% negative predictive value. The predictive accuracy of haemoglobin was 0.88 (AUC) which was similar for patients with CD and UC (AUC 0.87 and 0.81 respectively). A combination of both tests did not increase the predictive accuracy compared to each test alone (AUC 0.88). Conclusions: Faecal haemoglobin can identify IBD patients with active inflammation with a predictive accuracy similar to faecal calprotectin. P262 Demographic characteristic of children with early clinical manifestation of the inflammatory bowel disease S. Szymanska1 *, M. Szczepanski1, P. Landowski2, G. CzajaBulsa3, E. Jarocka-Cyrta4, B. Korczowski5, E. Krzesiek6, E. Szymanska1, J. Kierkus1. 1The Children Memorial Health Institute, Hepatology and Feeding Disorders, Warsaw, Poland, 2Medical University of Gdansk, Poland, 3Pomeranian Medical University, Poland, 4Medical University of Bialystok, Poland, 5Medical College. University of Rzeszow, Poland, 6Medical University of Wroclaw, Poland

PEDIATRIC UROLOGY Complications after primary bladder exstrophy closure – role of pelvic osteotomy

IntroductionBladder exstrophy is the most common form of the exstrophy – epispadias complex. It is observed in 1:30 000 life births, about four times more often in boys than in girls. Iliac osteotomy is used to facilitate bringing together pubic bones and to minimize the tension of fused elements. To analyze complications after primary bladder exstrophy closure with a special consideration of the role of pelvic osteotomy.Material and methodIt is a retrospective study evaluating 100 patients (chosen by chance out of 356) with bladder exstrophy (65 boys and 35 girls), treated in Pediatric Urology Department of the Children's Memorial Health Institute in Warsaw, Poland between 1982 and 2006. All children underwent primary bladder exstrophy closure, among them 32 elsewhere. Primary bladder exstrophy closure with contemporary iliac osteotomy was done in 36 children. In the rest 64 patients bladder was closed without osteotomy, regardless child's age.ResultsDehiscence after primary closure followed with bladder prolaps occurred in 31 patients, among them 13 out of 68 (19%) operated in our department and 18 out of 32 (56%) operated in another hospital. Primary bladder exstrophy closure with contemporary iliac osteotomy was done in 32 infants above 72 hours of life.ConclusionsOsteotomy performed at primary bladder exstrophy closure diminishes the risk of wound dehiscence independently of patient's age. Posterior iliac osteotomy is sufficient and safe and could be repeated if necessary.

Gastrointestinal side effects in children with Wilson's disease treated with zinc sulphate

To investigate the side effects of a zinc sulphate therapy in a cohort of Polish pediatric patients with Wilson's disease. We retrospectively analyzed a cohort of 53 pediatric patients with Wilson's disease treated at the Children's Memorial Health Institute in Warsaw, Poland between the years 1996 and 2011 with zinc sulphate. Patients were diagnosed with Wilson's disease according to the scoring system of Ferenci, with 49 cases confirmed by mutation analysis. Data about the dosage scheme of zinc sulphate, side effects and efficacy and toxicity of the treatment were collected and recorded in the patient's medical chart at each visit to the hospital. Mean age of diagnosis for the entire cohort was 10 years (range, 2.5-17 years). Duration of treatment with zinc sulfate was 83.3 wk (range, 8-344 wk). Side effects, all of gastrointestinal origin, were observed in 21 patients (40%--9 males and 12 females), irrespective of the duration of therapy. Thirteen out of 21 patients were over the age of 10 years. The most common ATP7B mutation was p.H1069Q. Esophagogastroduodenoscopy, performed in 7 patients (33.3%) suffering from persistent and severe abdominal pain, revealed gastrointestinal ulcerations or erosions with negative Helicobacter pylori tests in all subjects investigated. The above mentioned 7 patients were treated with proton pump inhibitors. Three of those experienced resolution of symptoms, whereas proton-pump inhibitors failed to alleviate symptoms of the remaining four children and conversion of therapy to D-penicillamine was needed. Zinc sulphate appears to cause significant gastrointestinal side effects, which children on therapy for Wilson's disease should be closely monitored for.

Inwazyjne zakażenie Haemophilus influenzae typu b u dziecka z pełnym cyklem szczepień

Haemophilus influenzae type b (Hib) is one of the leading causes of invasive bacterial infection of young children worldwide. Especially vulnerable are children in the first years of life because of immature, T-independent immune response for polysaccharide of the capsule. Introduction of Hib protein-polysaccharide conjugate vaccines into national immunization programs has resulted in the virtual elimination of invasive Hib disease in vaccinated children and their community. Here is descripted a case of 4 years boy, who developed Hib septicemia and encephalomeningitis probably the same etiology despite of vaccination (at the age of 6, 7, 18 months). The boy was evaluated for immunoglobulin and complement deficiency at Clinic Vaccination of Risk Groups in Children's Memorial Health Institute, and no immunodeficiency was found.

Management of Severe Ascites in Children after Liver Transplantation with the Use of Peritoneo-Venous Denver Shunt - Two Case Reports

Introduction: Denver shunt is the peritoneo-venous shunt which is indicated for patients in whom ascites has not responded to medical management. Aim: The aim of this study is to present our experience with the use of Denver shunts in pediatric patients after liver transplantation. Material and methods: Between 2008-2012 in the Children's Memorial Health Institute there were 6 patients treated with the insertion of the Denver Shunt. In two of them the indication for the shunt was prolonged severe ascites after liver transplantation that could‘t be managed in any other way. Two boys: 17 year old and 15 years old with body mass 54 and 47 kg were transplanted due to liver failure caused by Budd-Chiari syndrome and cystic fibrosis respectively. The severe ascites has appeared just after transplantation despite of the proper graft function and normal portal and hepatic veins flow. The waste of ascitic fluid ranged between 40-120 ml/kg/24h (2200-5600ml/24h) and required albumin supplementation. The shunts were inserted on the 8 and 10 day after transplantation respectively. Results: In the first patient the shunt was removed after 7 months with the complete resolution of the ascites. He is in remission with the observation time 5 months. In the second patient the shunt is still functioning with two months follow-up. In the first one the revision of the shunt was performed due to the shunt occlusion. There was no other complications. Conclusion: It seems that the Peritoneo-venous Denver Shunt can be used effectively in selected children as the management of otherwise incurable ascites with low complication rate.

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome. A single-center, retrospective analysis was performed of patients with documented TSC seen from 1988 to 2010 at the Children's Memorial Health Institute, Warsaw, Poland. Sixty-two patients were analyzed, and there was a significant correlation between younger age at the first seizure and developmental delay. The patients who did not develop seizures had normal development, despite some presenting with higher tuber load than those with seizures. There was a statistically significant negative correlation between the number of tubers within the right temporal lobe and cognition. Our findings confirm our hypothesis that the cognitive outcome in TSC is more dependent on the age of the seizure onset rather than on the tuber count.

872 Antimicrobial Resistance of Streptococcus Pneumoniae Isolated From Children with Nasopharyngeal Carriage and Infections During the 9-Year Period (1999-2007)

Aim: Streptococcus pneumoniae continues to be an important cause of community-acquired respiratory tract infections. Because of increase in its antimicrobial resistance, the surveillance of the local antimicrobial susceptibility of S.pneumoniae should be carried out regularly.Methods: Streptococcus pneumoniae strains were isolated from children on admission to The Children's Memorial Health Institute, Warsaw, Poland between Jan 1999 and Dec 2007. A total of 784 isolates of S.pneumoniae were collected. Susceptibility to antibiotics was analyzed in two periods: 1999-2002 and 2003-2007. All the strains (185) collected in the first period originated from children with pneumococcal diseases. Of the 599 strains obtained in the second period, 234 were isolated from children with S.pneumoniae infection and 365 from children with nasopharyngeal carriage.Results and Conclusions: Rate of resistance to penicillin was stable during the whole period of the study (3% vs. 4%). Higher resistance rates to erythromycin (19% vs. 29%), clindamycin (14% vs. 26%) and lower resistance rates to tetracycline (37% vs. 9%) and co-trimoxazole (47% vs. 41%) were observed among isolates obtained in the second period. S.pneumoniae strains isolated from infections and from carriage exhibited similar resistance patterns.

Aminoacylase 1 deficiency associated with autistic behavior

Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represents a true metabolic disease with a causal relationship between the enzyme defect and the clinical phenotype or merely a biochemical abnormality. Here we present a patient identified in the course of selective screening for inborn errors of metabolism (IEM). The patient was diagnosed with autistic syndrome and admitted to the Children's Memorial Health Institute (CMHI) for metabolic evaluation. Organic acid analysis using gas chromatography-mass spectrometry (GC-MS) revealed increased urinary excretion of several N-acetylated amino acids, including the derivatives of methionine, glutamic acid, alanine, glycine, leucine, isoleucine, and valine. In Epstein-Barr virus (EBV)-transformed lymphoblasts, ACY1 activity was deficient. The mutation analysis showed a homozygous c.1057C>T transition, predicting a p.Arg353Cys substitution. Both parents were heterozygous for the mutation and had normal results in the organic acid analysis using GC-MS. This article reports the findings of an ACY1-deficient patient presenting with autistic features.

Staphylococcus aureus small colony variants (SASCVs) in CF pts treated at Children's Memorial Health Institute, Warsaw, Poland

Staphylococcus aureus small colony variants (SASCVs) in CF pts treated at Children's Memorial Health Institute, Warsaw, Poland

Emergence and persistence of integron structures harbouring VIM genes in the Children's Memorial Health Institute, Warsaw, Poland, 1998-2006

The aim was to perform a genetically detailed study of the emergence of metallo-beta-lactamase (MBL) genes in Pseudomonas spp. in the Children's Memorial Health Institute over a 9 year period. Carbapenem-resistant Pseudomonas spp. isolates were collected from 1998 to 2006 and screened for MBL production. MBL-positive isolates were further investigated by a combination of genetic techniques including PCR, genomic location experiments using pulsed-field gel electrophoresis (PFGE) of I-Ceu1, S1 and SpeI digests, and sequencing. Of the 20 MBL-containing Pseudomonas isolates collected from 1998 to 2006, 16 Pseudomonas aeruginosa isolates contained an identical class 1 integron structure. Two P. aeruginosa isolates contained the bla(VIM-2) gene, and two Pseudomonas putida isolates harboured the bla(VIM-4) gene cassette in different integron structures. PFGE analysis indicated that all bla(VIM-4)-containing P. aeruginosa isolates were closely related, whereas the P. putida isolates were not. All MBL genes in this study were chromosomally encoded, and all isolates harboured only one class 1 integron. The bla(VIM-2) isolates were clonal, and the genetic structure supporting the bla(VIM-2) gene was found in an identical chromosomal position. MBL gene emergence in this hospital has paralleled a 6-fold increase in carbapenem usage. We have found an increase in MBL gene diversity, MBL host organisms and MBL genetic support structures in the hospital over the 9 year study period. There is also compelling evidence of the persistence of individual strains in the hospital throughout the study period. This suggests that once MBL genes have emerged in a hospital environment, they are difficult to remove.

Non-invasive ventilation in postoperative management of neonates and young infants

UENPS.215 Non-invasive ventilation in postoperative management of neonates and young infants Warzocha Katarzyna⁎, Manowska Malgorzata Children's Memorial Health Institute, Warsaw, Poland

A Psychosexual Follow-Up Study of Patients with Mixed or Partial Gonadal Dysgenesis

Study Objective To provide late adolescent and young adult psychosexual follow-up information on a consecutive series of patients with either mixed or partial gonadal dysgenesis. Setting Children's Memorial Health Institute (Warsaw, Poland). Participants 19 patients (age range, 17–26 years), 9 raised as females and 10 raised as males. Measures Clinical interview and psychologic tests were used to evaluate gender identity, gender role, and sexual behavior. Results All patients raised as male had a normal male gender identity, displayed masculine gender role behavior in childhood, and had a heterosexual sexual orientation. Seven of the 10 male patients had experienced heterosexual intercourse. Two out of nine women did not identify with the female gender. The majority had masculine gender role interests in childhood. The female patients were significantly less likely to have experienced sexual activity with a partner than the male patients. Conclusion Although gender identity differentiated largely in accordance with sex assignment or sex of rearing in our sample, the patients reared as female appeared to have poorer sexual adjustment than the males. Cultural factors may have impacted on this latter outcome.

Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy

American Journal of Medical Genetics Part AVolume 143A, Issue 16 p. 1925-1927 Research Letter Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy† Grzegorz Węgrzyn, Corresponding Author Grzegorz Węgrzyn wegrzyn@biotech.univ.gda.pl Department of Molecular Biology, University of Gdańsk, Kładki 24, Gdańsk, PolandDepartment of Molecular Biology, University of Gdańsk, Kładki 24, 80-822 Gdańsk, Poland.Search for more papers by this authorAnna Tylki-Szymańska, Anna Tylki-Szymańska Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, PolandSearch for more papers by this authorAnna Liberek, Anna Liberek Department of Pediatrics, Children's Gastroenterology and Oncology, Medical University of Gdańsk, Nowe Ogrody 1-6, Gdańsk, PolandSearch for more papers by this authorEwa Piotrowska, Ewa Piotrowska Department of Molecular Biology, University of Gdańsk, Kładki 24, Gdańsk, PolandSearch for more papers by this authorJoanna Jakóbkiewicz-Banecka, Joanna Jakóbkiewicz-Banecka Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Kładki 24, Gdańsk, PolandSearch for more papers by this authorJolanta Marucha, Jolanta Marucha Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, PolandSearch for more papers by this authorBarbara Czartoryska, Barbara Czartoryska Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, Warsaw, PolandSearch for more papers by this authorAlicja Węgrzyn, Alicja Węgrzyn Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Kładki 24, Gdańsk, PolandSearch for more papers by this author Grzegorz Węgrzyn, Corresponding Author Grzegorz Węgrzyn wegrzyn@biotech.univ.gda.pl Department of Molecular Biology, University of Gdańsk, Kładki 24, Gdańsk, PolandDepartment of Molecular Biology, University of Gdańsk, Kładki 24, 80-822 Gdańsk, Poland.Search for more papers by this authorAnna Tylki-Szymańska, Anna Tylki-Szymańska Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, PolandSearch for more papers by this authorAnna Liberek, Anna Liberek Department of Pediatrics, Children's Gastroenterology and Oncology, Medical University of Gdańsk, Nowe Ogrody 1-6, Gdańsk, PolandSearch for more papers by this authorEwa Piotrowska, Ewa Piotrowska Department of Molecular Biology, University of Gdańsk, Kładki 24, Gdańsk, PolandSearch for more papers by this authorJoanna Jakóbkiewicz-Banecka, Joanna Jakóbkiewicz-Banecka Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Kładki 24, Gdańsk, PolandSearch for more papers by this authorJolanta Marucha, Jolanta Marucha Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, Warsaw, PolandSearch for more papers by this authorBarbara Czartoryska, Barbara Czartoryska Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, Warsaw, PolandSearch for more papers by this authorAlicja Węgrzyn, Alicja Węgrzyn Laboratory of Molecular Biology (affiliated with the University of Gdańsk), Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Kładki 24, Gdańsk, PolandSearch for more papers by this author First published: 29 June 2007 https://doi.org/10.1002/ajmg.a.31831Citations: 18 † How to cite this article: Węgrzyn G, Tylki-Szymańska A, Liberek A, Piotrowska E, Jakóbkiewicz-Banecka J, Marucha J, Czartoryska B, Węgrzyn A. 2007. Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy. Am J Med Genet Part A 143A:1925–1927. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume143A, Issue1615 August 2007Pages 1925-1927 RelatedInformation

Report on the Round Table Conference on Medical Care Management of Patients with Neurocutaneous Syndromes

On 9 November 2004 the Round Table Conference on Medical Care Management of Patients with Neurocutaneous Syndromes was held in Warsaw. The Conference was organised by the Polish Neurocutaneous Syndromes Clinics Initiating Group and the Children's Memorial Health Institute in Warsaw. The heads of the departments involved in the treatment of patients with phakomatoses and delegates of the Polish Ministry of Health and the Polish National Health Fund participated in the Meeting. Members of patients' families, gathered in three paternal organizations: Neurofibromatosis 1, Tuberous Sclerosis and Sturge-Weber Syndrome have also taken the floor. Altogether, approximately 120 persons attended the Conference. Currently, the Polish Neurocutaneous Syndromes Clinics Initiating Group consists of representatives of 3 centres in Poland (Warsaw, Bydgoszcz and Szczecin), which assembled the major number of patients with neurocutaneous syndromes within the last two decades. In the future, it is planned to extend the Group to include other centres involved in neurocutaneous syndromes in Poland. In the first part of the Conference, Professor Sergiusz Joźwiak, Professor Mariusz Wysocki and Professor Jan Lubinski presented diagnostic and therapeutic standards in three most frequent neurocutaneous syndromes: tuberous sclerosis, neurofibromatosis and von Hippel-Lindau disease. They all emphasised that the knowledge about these syndromes in medical milieu is still insufficient and that regular control examinations in phakomatoses are required to diagnose neoplasms at their earliest stage. In the second part of the Conference, methods to improve medical care of neurocutaneous syndrome patients were discussed. Both family members and specialists stressed that specialised clinical centres resembling Phakomatoses Clinics existing in some countries are needed to establish comprehensive management of the patients. The problems with performance of control examinations (including CT and MRI scans), which are often expensive, were also raised. The lack of respective regulations of payment by the National Health Fund was pointed out among the reasons of insufficient number of these examinations. The possibility of creating national registers of selected phakomatoses, which could help to assess the exact frequency of these diseases in Poland, was also discussed. In many countries, genetic examinations are performed with respect to neurocutaneous syndromes; whereas in Poland, except for von Hippel-Lindau disease, such examinations are not available. This issue was discussed as well. Delegates of the National Health Fund declared that it would be possible to obtain individual promises of reimbursement of costs of such examinations performed abroad. The Conference was the first public discussion on the management of patients with neurocutaneous syndromes in Poland.

Experience using Presternal Catheter for Peritoneal Dialysis in Poland: A Multicenter Pediatric Survey

Permanent and adequate access to the peritoneal cavity is the key to successful chronic peritoneal dialysis (PD). A variety of catheter designs and implantation techniques have been developed to achieve optimal peritoneal access. One such new and modified PD catheter is the presternal catheter [swan neck presternal catheter (SNPC)], with the exit site located on the chest wall. A multicenter survey was undertaken to summarize 10 years of experience with the presternal catheter in children in Poland. Four pediatric institutions using the SNPC in children: (1) Medical University of Warsaw, Warsaw; (2) Children's Memorial Health Institute, Warsaw; (3) District Children's Hospital, Szczecin; (4) University of Medical Sciences, Poznan. During the past 10 years, 20 presternal catheters were implanted in 19 children, aged 0.2-17.7 years (mean 8 +/- 5.8 years), with end-stage renal failure.The main indications for the SNPC include urinary diversion (ureterocutaneostomy or vesicostomy), use of diapers, young age, obesity, abdominal wall weakness, and recurrent exit-site infections (ESI) with previous abdominal PD catheters. In all children the presternal catheter was implanted surgically under general anesthesia by one surgeon. Uniform operative technique and uniform perioperative management were used. The mean observation time for the 20 presternal catheters was 24.8 +/- 25 months (range 1-83 months). The ESI rate was 1/70.9 patient-months (0.17 episodes per year), tunnel infection rate was 1/248 patient-months (0.05 episodes per year), and the overall peritonitis rate was 1/26.6 patient-months (0.51 episodes per year). Non-infectious complications associated with the SNPC included disconnection of both sections (2 children) and trauma to the exit site located on the chest wall (4 children). Mean survival time of the presternal catheter, as calculated by the Kaplan-Meier method, was 57.5 +/- 8.5 months; 50% catheter survival reached 72 months. The good outcome in patients with a SNPC validates the rationale for the presternal catheter design and should encourage its more widespread use. The SNPC seems to be suitable for any patient on PD; however, this catheter is particularly useful in patients with specific indications (ie., higher tendency to ESI). The SNPC allows safe and long-term chronic PD in very young children using diapers and in patients with urinary diversion.