Children's Memorial Health Institute Research Articles

Reference Range of Quantitative MRI Metrics Corrected T1 and Liver Fat Content in Children and Young Adults: Pooled Participant Analysis.

Multiparametric MRI markers of liver health corrected T1 (cT1) and proton density fat fraction (PDFF) have shown utility in the management of various chronic liver diseases. We assessed the normal population reference range of both cT1 and PDFF in healthy child and adult volunteers without any known liver disease. A retrospective multi-centre pooled analysis of 102 child and young adult (9.1 years (6-18)) volunteers from three centres: Children's Memorial Health Institute (N = 21), University Hospital Southampton (N = 28) and Hospital Infantil de Mexico (N = 53). Sex and ethnic differences were investigated for both cT1 and PDFF. Age effects were investigated with comparison to a pooled adult cohort from the UK Biobank (N = 500) and CoverScan (N = 71), covering an age range of 21 to 81 years. cT1 values were normally distributed with a median of 748 ms (IQR: 725-768 ms; 2.5-97.5 percentiles: 683-820 ms). PDFF values followed a normal distribution with a median of 1.7% (IQR: 1.3-1.9%; 2.5-97.5 percentiles: 1-4.4%). There were no significant age and sex differences in cT1 and PDFF between children and young adults. No differences in cT1 and PDFF were found between ethnicities. Age comparisons showed statistically significant, but clinically negligible, cT1 (748 ms vs. 732 ms) and PDFF (2.4% vs. 1.9%) differences between paediatric and adult groups, respectively. Median healthy cT1 and PDFF reference ranges in children and young adults fall within the reported limits for normal of 800 ms and 5%, respectively.

Musculoskeletal System and Gait Characteristics in Patients with Osteogenesis imperfecta

Objectives The aim of the study was to assess the muscoloskeletal system and spatiotemporal gait parameters of patients in three types of osteogenesis imperfecta. Design study Retrospective observational study. Settings The Department of Rehabilitation, Children's Memorial Health Institute in Warsaw, Poland. Participants This study investigated individuals with various types of osteogenesis imperfecta: 33 with osteogenesis imperfecta I (aged 13.9), 16 with osteogenesis imperfecta III (aged 10.4), and 14 with osteogenesis imperfecta IV (aged, 15.8), as well as a reference group of 400 healthy individuals. Main measures The musculoskeletal assessment included: medical record review, clinical evaluation, functional tests, long bone deformity assessment via clinical and X-ray examination, and objective gait analysis with the Vicon Motion Systems (Ltd, Oxford, UK). Results The study revealed notable differences in clinical presentation, deformities within the musculoskeletal system, gait parameters across the various types of osteogenesis imperfecta (p < 0.001). The most affected gait parameters were: cadence, gait speed and step length. The greatest deformities of lower limbs and spine were presented in patients with osteogenesis imperfecta type III. Conclusions These findings are significant for understanding gait abnormalities in osteogenesis imperfecta patients and designing customized physiotherapy programs to help them participate fully in daily life. Improvement of muscle strength is one of the key for easier engagement in activities like walking or stair-climbing.

Middle temporal gyrus approach to mesial temporal lobe tumours in children.

To assess whether the middle temporal gyrus (MTG) approach to mesial temporal lobe (MTL) tumours is an effective procedure for the treatment of epilepsy in children. MTL tumours are a common cause of drug-resistant epilepsy in children. There is as yet no consensus regarding their treatment. One possibility is resection via a MTG approach. We assessed the medical records of patients treated at the Department of Neurosurgery, Children's Memorial Health Institute,Warsaw, Poland between 2002 and 2020. A prospectively maintained database including clinical, laboratory, and radiographic presentation, as well as pre- and post-operative course, was analysed. Patients with at least a one- -year follow-up were included. There were 14 patients aged 4-18 years who underwent a MTG approach for a MTL tumour. All presented with epileptic seizure, and none had neurological deficit on admission to hospital. Median follow-up was 2.5 years. Neuronavigation was used to adjust the approach, localise the temporal horn, and achieve radical resection of the tumour and the hippocampus. Gross total resection was performed in all cases. In most patients, histopathological examination revealed ganglioglioma. One patient had transient aphasia. Two patients developed hemiparesis after surgery, which later improved. One of them also experienced visual disturbances. Acute complications were more frequent in younger patients (p = 0.024). In all cases, MRI confirmed complete resection and there was no tumour recurrence during the follow-up period. 13/14 patients remained seizure-free (Engel class I). The MTG approach to MTL tumours is an effective procedure for the treatment of epilepsy in children. It avoids removal of the lateral temporal lobe and poses only a minor risk of permanent neurological complications.

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.5 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Therapy with recombinant human growth hormone (rhGH) is implemented to increase body height in children with SRS. The effect of the administered rhGH on height, weight, body mass index (BMI), body composition, and height velocity in patients with SRS during 3 years of rhGH therapy was analysed. 31 SRS patients (23 with 11p15 LOM, 8 with upd(7)mat) and 16 patients small for gestational age (SGA) as a control group were diagnosed and followed up in The Children's Memorial Health Institute. Patients were eligible for the 2 Polish rhGH treatment programmes [for patients with SGA or with growth hormone deficiency (GHD)]. Anthropometric parameters were collected in all patients. Body composition using bioelectrical impedance was measured in 13 SRS and 14 SGA patients. Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: -3.3 ± 1.2 vs. -2.6 ± 06 (p = 0.012), -2.5 vs. -1.9 (p = 0.037), -1.7 vs. -1.1 (p = 0.038), respectively. Height SDS was increased from -3.3 ± 1.2 to -1.8 ± 1.0 and from -2.6 ± 0.6 to -1.3 ± 0.7 in the SRS and SGA groups, respectively. Patients with 11p15 LOM and upd(7) mat achieved similar height, 127.0 ± 15.7 vs. 128.9 ± 21.6 cm, and -2.0 ± 1.3 vs. -1.7 ± 1.0 SDS, respectively. Fat mass percentage decreased in SRS patients from 4.2% to 3.0% (p < 0.05) and in SGA patients from 7.6% to 6.6% (p < 0.05). Growth hormone therapy has a positive influence on the growth of SRS patients. Regardless of molecular abnormality type (11p15 LOM vs. upd(7)mat), height velocity was similar in SRS patients during 3 years of rhGH therapy.

BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw.

ObjectiveWe aimed to assess BCG (Bacillus Calmette-Guérin) complications in patients with Inborn Errors of Immunity (IEI), according to the inherited disorders and associated immunological defects, as well as the different BCG substrains.MaterialWe studied adverse reactions to the locally-produced BCG Moreau vaccine, analyzed in patients with IEI diagnosed between 1980 and 2020 in the Department of Immunology, Children's Memorial Health Institute (CMHI), Warsaw. These results were compared with previously published studies.ResultsSignificantly fewer disseminated BCG infections (BCGosis) were found in 11 of 72 (15%) SCID (Severe Combined Immunodeficiency) NK (Natural Killer)-phenotype patients, when compared with the 119 out of 349 (34%) (p = 0.0012) patients with SCID with BCG in other countries. Significantly fewer deaths caused by BCGosis were observed (p = 0.0402). A significantly higher number of hematopoietic stem cell transplantations (HSCTs) were performed in the CMHI study (p = 0.00001). BCGosis was found in six patients with Mendelian susceptibility to mycobacterial diseases (MSMD). Other patients with IEI prone to BCG complications, such as CGD (Chronic Granulomatous Disease), showed no case of BCGosis.ConclusionThe BCG Moreau substrain vaccine, produced in Poland since 1955, showed genetic differences with its parental Brazilian substrain together with a superior clinical safety profile in comparison with the other BCG substrains, with no BCGosis in patients with IEI other than SCID and MSMD. Our data also confirmed significantly fewer cases of BCGosis and deaths caused by BCG infection in patients with SCID with this vaccine substrain. Finally, they confirmed the protecting role of NK cells, probably via their production of IFN-γ.

PD-L1/miR-155 Interplay in Pediatric High-Grade Glioma.

High-grade pediatric glioma (p-HGG—WHO 2021, formerly GBM—WHO 2016), as a common, aggressive, and highly lethal primary brain malignancy in adults, accounts for only 3–15% of primary brain tumors in pediatric patients. After leukemia, brain malignancies are the second most common in the pediatric population and first in incidences concerning solid tumors. This study was designed on the basis of 14 pediatric patients hospitalized at Children’s Memorial Health Institute in Warsaw, Poland, due to p-HGG treatment. All the patients had a histopathological diagnosis performed by an experienced neuropathologist according to WHO guidelines (WHO 2016 Grade IV Glioblastoma). A significant correlation was found between the miR-155 concentration and the level of PD-L1 expression in p-HGG tumor tissue. Very few reports have indicated PD-L1 expression in pediatric patients.

Endocrine dysfunction in children with Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children's Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. In the pilot study, retrospective data were collected for 5 patients with SDS. Subsequently, patients with SDS aged 3-16 years were recruited prospectively. In total, 19 patients with mutations in the SBDS gene were studied. Data were collected on anthropometric measurements, systemic screening tests of pituitary, thyroid, adrenal, pancreatic, and gonadal function, as well as bone mineral density. Descriptive statistics were tabulated and group differences assessed. Twelve patients (63%) had ≥ 1 endocrine disorder, including growth hormone dysfunction (10 patients, 53%), hypothyroidism (2 patients, 10%), congenital hypopituitarism (1 patient, 5%), and/or type 1 diabetes mellitus (T1DM) (1 patient, 5%). The group of boys presented with a significantly lower height (-2.1 SD, p < 0.0001) and BMI (-1.0 SD, p < 0.00001). The group of girls also showed significantly lower height (-2.6 SD, p < 0.00001) and BMI (-0.7 SD, p < 0.0001). All patients had significantly lower height than their mid-parental height. Delayed bone age was found in 15 patients (84%) and osteopaenia in 12 of 15 patients (80%). Endocrine dysfunctions are common in SDS, especially growth hormone (GH) deficiency. Children with poor growth can benefit from an endocrinological evaluation and tests for GH deficiency. Bone mineral density measurements should be a part of a routine screening. Longitudinal studies are needed to better understand the aetiology and true prevalence of these disorders.

Is there a common cause for paediatric Cushing's disease?

According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing's disease (CD). Data on the frequency of these mutations in the paediatric population are limited. The aim of the presented study was to determine the frequency of the USP8 gene mutations in a group of paediatric patients with CD treated at the Children's Memorial Health Institute (CMHI). Eighteen patients (nine females) with CD were treated at CMHI, Warsaw, Poland between 1993 and 2019. All patients underwent transsphenoidal surgery (TSS) as a primary treatment for CD. The average age of all patients at TSS was 13.10 years (5.42-17.25). DNA was extracted from formalin-fixed paraffin-embedded resected tumour tissue. Sanger sequencing was performed on DNA sequence corresponding to the exon 14 of USP8 gene. The mean age at diagnosis of CD was 13.08 years, and the average duration of symptoms before diagnosis was 2.96 years. All patients were operated at CMHI by the same neurosurgeon. Fifteen out of 18 patients (83.33%) had initial biochemical remission after a single TSS procedure (post-operative serum cortisol < 1.8 μg/dL). The result of genetic testing was negative for all samples at the hotspot area of the USP8 gene. The current retrospective study demonstrates that mutations in the USP8 gene may not be as common a cause of paediatric Cushing's disease, as previously reported.

Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Children.

Background: Kawasaki disease (KD) is an acute self-limited febrile vasculitis that mainly affects young children. Coronary artery involvement is the most serious complication in children with KD. It is currently the leading cause of acquired cardiac disease in children from developed countries. Literature data indicate a significant role of genetic susceptibility to KD.Objective: The aim of this study was to perform the first Genome-Wide Association Study (GWAS) in a population of Polish children with KD and identify susceptible genes involved in the pathogenesis of KD.Materials and Methods: The blood samples of Kawasaki disease patients (n = 119) were collected between 2016 and 2020, isolated and stored at the Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute in Warsaw. The control group was based on Polish donors (n = 6,071) registered as the POPULOUS collection at the Biobank Lab of The Department of Molecular Biophysics in University of Lodz. DNA samples were genotyped for 558,231 Single Nucleotide Polymorphisms (SNPs) using the 24 × 1 Infinium HTS Human Core Exome microarrays according to the protocol provided by the manufacturer. In order to discover and verify genetic risk-factors for KD, association analysis was carried out using PLINK 1.9.Results: Of all 164,395 variants, 5 were shown to occur statistically (padjusted < 0.05) more frequent in Kawasaki disease patients than in controls. Those are: rs12037447 in non-coding sequence (padjusted = 8.329 × 10−4, OR = 8.697, 95% CI; 3.629–20.84) and rs146732504 in KIF25 (padjusted = 0.007354, OR = 11.42, 95% CI; 3.79–34.43), rs151078858 in PTPRJ (padjusted = 0.04513, OR = 8.116, 95% CI; 3.134–21.01), rs55723436 in SPECC1L (padjusted = 0.04596, OR = 5.596, 95% CI; 2.669–11.74), rs6094136 in RPN2 (padjusted = 0.04755, OR = 10.08, 95% CI; 3.385–30.01) genes.Conclusion: Polymorphisms of genes KIF25, PTRPJ, SPECC1L, RNP2 may be linked with the incidence of Kawasaki disease in Polish children.

Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population

IntroductionThe incidence and prevalence of congenital disorders of glycosylation (CDG) have not been well established. The aim of the study was to evaluate the prevalence, incidence and genotypes of CDG patients diagnosed during the last 23 years in Poland (1997 – 30th October 2020). Material and methodsThe diagnosis was based on serum Tf IEF which is performed at The Children's Memorial Health Institute (CMHI) in Warsaw. Based on demographic data, the prevalence of CDG among the Polish population in 2020 as well as the birth prevalence of CDG from 1990 to 2020 were estimated. Results39 patients (from 35 families) with molecularly confirmed CDG were diagnosed, including 17 (44%) patients (from 16 families) with PMM2-CDG. The c.422G > A, p.Arg141His and c.691G > A, p.Val231Met pathogenic missense variants were the most common identified PMM2 variants. Eleven other patients were diagnosed with CDG based on serum Tf IEF analysis only; the molecular analysis is pending. Ten CDG patients died, including 6 with PMM2-CDG, 1 with PGM1-CDG and 1 with DPAGT1-CDG. The prevalence of CDG in the Polish population was estimated at approximately 1 per million while that of PMM2 at 0.4 per million. The annual incidence of CDG was estimated at 0.013 per 100,000 people in 2020. ConclusionsA low frequence of CDG in our study could be underestimated.

Growth hormone improves short stature in children with Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is arare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is arecognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study: To assess the effect of rGH treatment in patients with SDS. Retrospective data were collected from patients with SDS and growth hormone deficiency (GHD) treated with rGH in the Children's Memorial Health Institute in Warsaw. The annual growth velocity (GV) and height standard deviation score (SD) were compared for up to 2 years of rGH treatment. Six SDS patients (M : F=1 : 5) treated with rGH were identified. The median age of starting rGH therapy was 7.5 years, with amean baseline height SD of -4.06 (range: -6.3 to -2.3 SD). The height SD significantly improved to -3.3 (p=0.002) and then -3.03 (p=0.002), following 1 and 2 years of treatment, respectively. The average GV for the patients prior to starting treatment was 4.9 cm/year (range: 3.1-6.5 cm/year), which significantly improved to 7.6 cm/year (range: 5.7-9.6 cm/year) after 1 year of rGH treatment (p=0.020) and to 6.7 cm/year at the end of 2 years. Our study has shown that rGH treatment significantly improves the height SDS and GV of patients with SDS and GHD without any side effects. Further research is required to analyse the long-term effect of rGH therapy in patients with SDS.

Multiparametric MRI as a Noninvasive Monitoring Tool for Children With Autoimmune Hepatitis.

Autoimmune hepatitis (AIH) is a progressive liver disease managed with corticosteroids and immunosuppression and monitored using a combination of liver biochemistry and histology. However, liver biopsy is invasive with risk of pain and bleeding. The aim of the present study was to investigate the utility of noninvasive imaging with multiparametric magnetic resonance imaging (MRI) (mpMRI) to provide clinically useful information on the presence and extent of hepatic inflammation, potentially guiding immunosuppression. Eighty-one participants (aged 6-18), 21 healthy and 60 AIH patients, underwent multiparametric MRI to measure fibro-inflammation with iron-corrected T1 (cT1) at the Children's Memorial Health Institute in Warsaw alongside other clinical blood tests and liver biopsy at recruitment and after an average of 16-month follow-up (range 9-22 months). Correlation analyses were used to investigate the associations between cT1 with blood serum markers and histological scores. At recruitment, patients with AIH had a higher cT1 value than healthy controls (P < 0.01). cT1 correlated significantly with key histopathological features of disease. Treatment naïve AIH patients showed evidence of inflammation and heterogeneity across the liver compared to healthy controls.At follow-up, cT1 showed utility in monitoring disease regression as most patients showed significantly reduced fibro-inflammation with treatment (P < 0.0001) over the observational period. Six patients had histological fibrosis and clear fibro-inflammation on MR despite biochemical remission (normalized aspartate aminotransferase (AST), alanine aminotransferase (ALT), and immunoglobulin G [IgG]). Multiparametric MRI can measure disease burden in pediatric AIH and can show changes over time in response to therapy. Active disease can be seen even in biochemical remission in children.

Long-term outcome in patients after treatment for Cushing's disease in childhood.

IntroductionCushing’s disease (CD) is a rare cause of hypercortisolemia presenting a major diagnostic and therapeutic challenge. Data on pituitary function in long-term follow-up after CD treatment in childhood is limited.AimLong-term assessment of patients of the Children’s Memorial Health Institute (CMHI) after CD treatment in childhood.Materials and methodsRetrospective analysis of 29 CD patients, mean age at the time of diagnosis 13.46 yrs. The long-term follow-up (FU) was done by: 1) obtaining the data from a patient’s questionnaire (75% of adult patients); 2) using the data from the last clinic visit for patients who did not respond to the questionnaire and for current CMHI patients. The average long-term FU from transsphenoidal pituitary surgery (TSS) was 10.23 yrs.ResultsAt the latest FU: 18 patients (62%) had long-term disease remission after TSS1, 2 patients (6.9%) after TSS2, 1 patient (3.4%) after the post-TSS radiotherapy (XRT) cycle and 3 patients (10.3%) after bilateral adrenalectomy (BA). One patient (3.4%) died after TSS2 due to postoperative complications, 1 patient (3.4%) had persistent disease at latest FU, in 1 patient (3.4%) the long-term FU was not possible to perform. CD recurrence occurred in 4 out of 28 patients (14%) at an average time 3.6 yrs. from definitive treatment. One patient (3.4%) after BA was operated because of Nelson's syndrome. Two patients (6.9%) were suspected of relapse at latest assessment. At the time of the last evaluation, 17 patients (63%) were on levothyroxine therapy since definitive treatment, 16 patients (59%) were on hydrocortisone treatment, 10 patients (37%) were taking sex hormones replacement, 4 patients (15%)—antidiuretic hormone.ConclusionsRelatively large number of patients after CD treatment in childhood have hormonal pituitary deficits as well as mood and cognitive disorders. CD recurrence can occur even after a long time post effective treatment.

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease.

Introduction: Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but is usually clinically asymptomatic. The portal hypertension in the course of CHF develops and progresses over time, so an early detection of liver fibrosis remains crucial.Aim: The aim of the study was to evaluate a predictive value of transient elastography for evaluating liver disease progress in pediatric ARPKD patients.Material and Methods: The study group encompassed 21 pediatric patients with ARPKD and 20 healthy children (control group) from The Children's Memorial Health Institute in Warsaw, Poland. Liver fibrosis was determined by assessing the liver stiffness (LS) with transient elastography (FibroScan®, FS) using size-appropriate probes. In ARPKD group the laboratory findings, results of an abdominal ultrasound examination, and an endoscopic gastroduodenoscopy were also analyzed.Results: Compared with healthy controls, patients with ARPKD had significantly increased median LS values (22 vs. 4.25 kPa, p < 0.0001). Based on FS results, ARPKD group was divided into two subgroups: patients (n = 5) with LS results suggestive of no fibrosis or minimal fibrosis (LS < 6.9 kPa, METAVIR fibrosis stage 0–1) and patients (n = 16) with LS results suggestive of at least significant liver fibrosis (LS ≥ 6.9 kPa, METAVIR fibrosis stage 2–4). In the first subgroup (no fibrosis or minimal fibrosis), all patients had no signs of portal hypertension. In the subgroup with at least significant liver fibrosis, splenomegaly was observed in 87.5% of patients and thrombocytopenia in 69% of patients. An endoscopic gastroduodenoscopy was performed in 15 out of 21 ARPKD patients, nine patients (60%) had esophageal varices. All of these patients had LS results suggestive of at least significant liver fibrosis.Conclusions: TE by FibroScan can be used as an additional method for evaluating liver disease progress in pediatric ARPKD patients.

Analysis of patients with pseudo-obstruction syndrome in home parenteral nutrition (HPN) program in warsaw

Rationale: Chronic intestinal pseudo-obstruction (CIP) is a rare disorder, characterized by abnormalities affecting peristalsis of gastrointestinal tract. In HPN program in Children's Memorial Health Institute in Warsaw on 1st of January 2018 out of all 143 patients 10 had CIP.

History of liver transplantation in Poland.

Experimental research on liver transplantation was introduced in Poland by Waldemar Olszewski with his team. It was in 1972. Not until 15 years later, in 1987, did Stanisław Zieliński in Szczecin and Marian Pardela in Katowice make an attempt of transplanting liver in humans. In 1989, the attempt was made by Jacek Pawlak and Marek Krawczyk in Warsaw. The first successful liver transplantation in Poland was performed by Piotr Kaliciński at the Children's Memorial Health Institute, Warsaw. Also, in early 1990s the attempts were made by Jerzy Polański in Warsaw and Piotr Szyber in Wrocław. In the next years, liver transplantations were connected with three centers in Szczecin and were associated with the following persons: Roman Kostryka, Maciej Wójcicki and Samir Zeaira. In Warsaw, 1994, Jacek Pawlak, Bogdan Michałowicz and Krzysztof Zieniewicz performed another successful liver transplantation. The program started to develop rapidly and is still up and running. In 2000, Wojciech Rowiński and Marek Pacholczyk created another liver transplant center in Warsaw, while in 2005 Lech Cierpka and Robert Król did the same in Katowice. In the following years, liver transplantation was initiated by Maciej Słupski in Bydgoszcz (2017) and Zbigniew Śledziński in Gdańsk (2018). In the developing liver transplant centers, an exceptional contribution was made by Paweł Nyckowski, Jacek Pawlak, Krzysztof Zieniewicz, Waldemar Patkowski, Tadeusz Wróblewski, Rafał Paluszkiewicz, Marek Pacholczyk, Andrzej Chmura, Maciej Kosieradzki and Marek Krawczyk - all employees of the Medical University of Warsaw. In Wrocław, Dariusz Patrzałek and Paweł Chudoba were very active in the field of liver transplantations. In 1996, the Organizing-Coordinating Center for Transplantation POLTRANSPLANT was brought to life. It was directed by Janusz Wałaszewski, then by Roman Danielewicz and Artur Kamiński. In 1999, Piotr Kaliciński and Marek Krawczyk started the program for liver fragment harvesting and transplantation from living donors. Until the end of 2016, 4186 liver transplantations including 314 liver transplants from living donors were performed in Poland. Currently, the active centers are three centers from Warsaw, namely Pediatric Surgery and Transplantation Surgery, Children's Memorial Health Institute; Department of General, Transplant and Liver Surgery, Medical University of Warsaw; Department of General and Transplant Surgery, Medical University of Warsaw. Other active centers include Department of General and Transplant Surgery, Provincial Hospital in Szczecin, Department of General, Vascular and Transplant Surgery, Medical University of Silesia, Katowice, Department of Vascular, General and Transplant Surgery in Wrocław. Liver transplant programs have also been initiated at the Department of Liver and General Surgery, Bydgoszcz, and Department of General, Endocrine and Transplant Surgery, Medical University of Gdańsk.

Nutritional therapy complications in children with ultra-short bowel syndrome include growth deficiency but not cholestasis.

AimChildren with ultra‐short bowel syndrome (USBS) have not been extensively studied to date because the condition is rare. The aim of the study was to assess the nutritional status of children with USBS receiving home parenteral nutrition, using citrulline serum concentration and cholestasis.MethodsWe studied 17 patients with USBS, with a median age of 6.6 years and median duration of parenteral nutrition of 6.6 years. The study was carried out at The Children's Memorial Health Institute, Warsaw, from January 2014 to January 2015.ResultsThe median standard deviation score (SDS) was −1.2 for body mass according to chronological age, −1.72 according to height and −0.59 according to height for age. Patients requiring seven days per week parenteral nutrition had a citrulline concentration below 10 μmol/L. Decreased bone‐mineral density was observed in 87% of the patients. Low values of 25‐hydroxyvitamin D were found in 53% of the children. None of the patients had elevated conjugated bilirubin levels above 34.2 μmol/L.ConclusionChildren with USBS were growth deficient according to their chronological age, with frequent abnormal bone mineralisation and vitamin D deficiency. Children requiring parenteral nutrition seven days a week had citrulline concentrations below 10 μmol/L. Cholestasis was not seen.

Oral mucosa lesions and gingival bleeding can indicate the progression of liver disease in children and adolescents aged two to 18 years

This study assessed correlations between systemic disturbances of paediatric chronic liver diseases (CLD) and oral symptoms in subjects aged 2-18years. It was carried out during outpatient appointments at the Children's Memorial Health Institute, Warsaw, Poland, from 2010 to 2015 and comprised 52 CLD patients with a mean age of 12.3±4.6. We also recruited 54 generally healthy controls with a mean age of 12.0±3.7 from the Department of Paediatric Dentistry at the Medical University of Warsaw. The study used various measures, including the Child-Pugh score, which assesses CLD prognosis. We also assessed the causes of liver disease and the medication taken by the patients with CLD. A total of 24 patients received a Child-Pugh score of seven or more points, while 28 patients were awarded five or six points. More severe cases of gingivitis and a greater prevalence of oral lesions were evident in patients suffering from liver disease. Oral candidiasis, telangiectasia, bald tongue, cracked strawberry lip, yellowish-brown gum discoloration, petechiae and gingival bleeding all correlated with the severity of liver dysfunction, coagulopathy, protein, bilirubin and creatinine levels and portal hypertension. This study found that oral lesions and gingival bleeding may indicate the progression of liver failure.

Optical Coherence Tomography-Based Angiography in Retinal Artery Occlusion in Children

Purpose: To evaluate the role of optical coherence tomography (OCT)-based angiography (OCTA) in the diagnosis and monitoring of pediatric patients with retinal artery occlusion (RAO). Material and Methods: This retrospective study was conducted at the Department of Ophthalmology, The Children's Memorial Health Institute, in Warsaw between March 2015 and May 2016. Every patient underwent a complete ophthalmological examination. The diagnosis of the disease was based on fundus examination and fluorescein angiography (FA). OCT and OCTA were performed at baseline and every follow-up visit. Results: Four patients (4 eyes) (2 boys/2 girls, age 8-16 years) with RAO were enrolled in the study. In all cases, initial OCTA images revealed typical ischemic changes in superficial and deep retinal capillary plexuses. Follow-up OCTA revealed increasing areas of ischemia in the RAO region and persistent narrowing of the arteries. The loss of capillary network and the darker, smooth background due to ischemia were visible on OCTA images. Conclusions: OCTA enables clear visualization of progressive impairment of the retinal vascular perfusion in children with RAO and may be an alternative to the standard FA. Further studies are needed to confirm our results and establish the role of OCTA in pediatric patients.

PocketECG: A New Noninvasive Method for Continuous and Real-Time ECG Monitoring-Initial Results in Children and Adolescents.

Long-term ECG is widely used in diagnosis and assessment of many cardiac symptoms which may be caused by dangerous arrhythmias that sometimes can be difficult to document. The PocketECG system is a new technological solution for a long-term, noninvasive, continuous and real-time ECG monitoring that provides automatic diagnosis of dysrhythmias. ECG data transmission occurs over a mobile network. The goal of this study was to assess the reliability of long-term ECG recordings acquired with the PocketECG system. One hundred and fifteen patients (43 girls and 72 boys) of an average age of 15.5±2.5years were examined at the Department of Cardiology at the Children's Memorial Health Institute. Two simultaneous 24-h ECG recordings were conducted: one with a Holter monitor and one with the PocketECG system. A linear correlation was demonstrated between the two methods with regard to the recorded QRS complexes [H=1173.0 (-1946.40; 4838.50)+PocketECG*0.98 (0.94; 1.02)]. Mean diurnal heart rhythms were comparable (p>0.05) despite the fact that the slowest and the fastest rates were different. The rate of detection for ventricular, supraventricular dysrhythmias and pauses in ventricular rhythm were comparable in both methods. The PocketECG system for continuous and real-time ECG recording is a reliable method for the assessment of heart rhythm and dysrhythmias in children and adolescents.