The features of liver lesions in children at the time of diagnosis of inflammatory bowel disease. Observations from one medical center

Wstęp: W przebiegu nieswoistych zapaleń jelit stosunkowo często procesem chorobowym objęte są inne narządy, w tym wątroba.Cel pracy: Ocena częstości występowania biochemicznych cech uszkodzenia wątroby w momencie rozpoznania nieswoistego zapalenia jelit (NZJ) u dzieci.Materiał i metody: Analizą objęto 49 dzieci z NZJ w wieku 2–18 lat. U wszystkich chorych przeprowadzono badanie kliniczne oraz diagnostykę laboratoryjną [między innymi aktywność aminotransferazy alaninowej (ALT) i asparaginowej (AST), gammaglutamylotranspeptydazy (GGTP) i stężenie bilirubiny w surowicy krwi]. Rozpoznanie choroby podstawowej ustalono na podstawie badania endoskopowego przewodu pokarmowego oraz oceny histopatologicznej wycinków błony śluzowej jelita. Jako podstawowe kryterium uszkodzenia wątroby przyjęto wartości aktywności ALT powyżej 45 j./l.Wyniki: Podwyższoną aktywność ALT stwierdzono u 16 badanych dzieci (32%) z nieswoistymi zapaleniami jelit. Aktywność ALT mieściła się w granicach 45–157 j./l; średnio 75,8 ± 40 j./l.Wnioski: U pacjentów pediatrycznych z nieswoistymi zapaleniami jelit stosunkowo często, już w momencie rozpoznania, obserwuje się cechy uszkodzenia wątroby. U wszystkich chorych z nieswoistymi zapaleniami jelit należy monitorować parametry funkcji wątroby w celu wczesnego rozpoznania współistniejących powikłań hepatologicznych. Obserwacje poczynione w niniejszym badaniu mają jedynie charakter wstępny i zobowiązują do pogłębienia diagnostyki „hepatologicznej” w celu ustalenia szczegółowego rozpoznania i wdrożenia właściwego leczenia. Konieczne są dalsze badania obejmujące liczniejsze grupy dzieci chorych na nieswoiste zapalenia jelit.Introduction: Patients with inflammatory bowel diseases (IBD) often develop complications involving other organs, including the liver.Aim of study: To assess the prevalence of elevated liver enzymes in children suffering from inflammatory bowel disease (IBD).Material and methods: We analyzed a group of 49 patients with IBD from 2 to 18 years old. Each patient had physical examination done, medical history taken and laboratory tests performed [alanine transaminase (ALT), aspartate transaminase (AST), gamma gluthamylotranspeptydase (GGTP), bilirubin]. The diagnosis of IBD was based on endoscopic and histopathological criteria.The liver damage was recognized when activity of ALT was above 45 U/l.Results: Increased liver enzymes activity was found in a group of 32% of patients with IBD. The activity of ALT ranged from 54 to 157 U/l.Conclusions: 1. In pediatric population with inflammatory bowel diseases the liver damage might be present at the very beginning of the IBD. 2. In all the patients with IBD liver enzymes activity ought to be monitored in order to recognize hepatic complications. 3. Observations of this study oblige to extend diagnostic procedures enabling accurate recognition and appropriate treatment

Do Our Patients Really Need Telerehabilitation? Digital Physical Therapy for Boys with Duchenne Muscular Dystrophy in the COVID-19 Pandemic

The COVID-19 pandemic forced the reorganization of the multidisciplinary healthcare system for Duchenne muscular dystrophy (DMD). Digital solutions seemed to be an optimal way for providing rehabilitation during this time. The aim of our study was to investigate whether it is possible to conduct respiratory physical therapy with the use of telerehabilitation methods in boys with Duchenne muscular dystrophy. Methods: The study was conducted during the online conference ‘DMD—Let’s be together’ for Polish families with DMD. During the physical therapy panel, we showed the video with the instructions of respiratory exercises: glossopharyngeal breathing, positive inspiratory pressure, and positive expiratory pressure. All participants (n = 152) were asked to fill in the online survey evaluating the quality of the instructions, its acceptance, and understanding. Results: The survey was filled in by 31 (20.4%) participants; the mean age of the patients was 13.8, and 19 (61.3%) were ambulant. The video was displayed 127 times. The overall mean rating of the session was 4.77/5, and intelligibility was rated 4.74/5. Fourteen (45.2%) patients declared that they had performed the exercises by themselves or with their caregiver’s assistance; all caregivers declared that it is possible to perform the proposed exercises a few times a week or daily. Only two respondents replied to the invitation for an individual online session. Conclusions: The findings from the study show that respiratory telerehabilitation may be implemented in DMD patients; however, the interest in digital rehabilitation among caregivers of DMD boys in Poland is low. The reason for this situation requires further research

Transition – proces przejścia pacjenta z chorobą rzadką z systemu opieki pediatrycznej do internistycznej

Recently, due to the progress in diagnostics and therapeutic possibilities in rare diseases, the life span of patients with rare diseases has significantly increased. The number of young adults with rare diseases has been systematically increasing, and therefore they require the continuity of multi-specialist individualized medical care provided at the same level as before in pediatric care. The transition process of care: from pediatric to adult one, should be a planned and properly prepared. So far, there are no Polish national management guidelines for adolescent patients with rare diseases. The authors present the difficulties associated with the transition period and propose basic recommendations based on the literature review and the experience of specialist centers of expertise and their ownWraz z rozwojem wiedzy dotyczącej patogenezy, diagnostyki i przebiegu klinicznego chorób rzadkich, dokonał się również postęp w zakresie możliwości terapeutycznych u obciążonych nimi chorych, a w następstwie znacząco wydłużył się czas życia pacjentów. W ostatnich latach systematycznie zwiększa się grupa młodych dorosłych z chorobami rzadkimi, którzy wymagają zapewnienia ciągłości wielospecjalistycznej zindywidualizowanej opieki medycznej na takim samym poziomie, jak dotychczas w opiece pediatrycznej. Okres przejścia (transition) pacjentów z opieki pediatrycznej do internistycznej powinien być procesem zaplanowanym i odpowiednio przygotowanym. Dotychczas nie powstały ogólnopolskie wytyczne dotyczące postępowania z dorastającymi pacjentami z chorobami rzadkimi. Autorzy przedstawiają trudności związane z okresem przejściowym oraz proponują podstawowe zasady postępowania oparte na przeglądzie literatury oraz doświadczeniu specjalistycznych centrów eksperckich oraz własny

Diet, Sun, Physical Activity and Vitamin D Status in Children with Inflammatory Bowel Disease

In the course of inflammatory bowel disease (IBD) malabsorption may lead to a vitamin D deficiency and calcium–phosphate misbalance. However, the reports on the vitamin D status in children with IBD are few and ambiguous. Here, we are presenting complex analyses of multiple factors influencing 25OHD levels in IBD children (N = 62; Crohn’s disease n = 34, ulcerative colitis n = 28, mean age 14.4 ± 3.01 years, F/M 23/39) and controls (n = 47, mean age 13.97 ± 2.57, F/M 23/24). Additionally, calcium–phosphate balance parameters and inflammatory markers were obtained. In children with IBD disease, activity and location were defined. Information about therapy, presence of fractures and abdominal surgery were obtained from medical records. All subjects were surveyed on the frequency and extent of exposure to sunlight (forearms, partially legs for at least 30 min a day), physical activity (at least 30 min a day) and diet (3 days diary was analyzed with the program DIETA 5). The mean 25OHD level was higher in IBD patients compared to controls (18.1 ng/mL vs. 15.5 ng/mL; p = 0.03). Only 9.7% of IBD patients and 4.25% of controls had the optimal vitamin D level (30–50 ng/mL). Despite the higher level of 25OHD, young IBD patients showed lower calcium levels in comparison to healthy controls. There was no correlation between the vitamin D level and disease activity or location of gastrointestinal tract lesions. Steroid therapy didn’t have much influence on the vitamin D level while vitamin D was supplemented. Regular sun exposure was significantly more common in the control group compared to the IBD group. We found the highest concentration of vitamin D (24.55 ng/mL) with daily sun exposure. There was no significant correlation between the vitamin D level and frequency of physical activity. The analysis of dietary diaries showed low daily intake of vitamin D in both the IBD and the control group (79.63 vs. 85.14 IU/day). Pediatric patients, both IBD and healthy individuals, require regular monitoring of serum vitamin D level and its adequate supplementation

Morbidity, Clinical Course and Vaccination against SARS-CoV-2 Virus in Patients with Duchenne Muscular Dystrophy: A Patient Reported Survey

Background: Patients with Duchenne muscular dystrophy (DMD) may be at higher risk of a severe course of COVID-19. The aim of the study was to evaluate: (1) the incidence and course of COVID-19 infection in DMD patients; (2) the vaccination status of DMD patients; and (3) COVID-19 related anxiety among DMD families. Materials and Methods: The study was conducted during an online symposium for DMD patients and their families. All participants (DMD families; n = 150) were asked to fill in the online survey with questions about COVID-19 infection history, vaccination against SARS-CoV-2 and anxiety during pandemic. Results: 53 DMD patients filled in the survey. Five (9.43%) were COVID-19 positive with mild symptoms of respiratory infection and anosmia; 23 (42.6%) were vaccinated, but in almost 20% of DMD families, none of the family members was vaccinated. Respondents revealed anxiety related both to the vaccination procedure and to COVID-19 infection (complications after infection 93.6%, death 62.4% respondents). Changes in health care system organization also aroused concern among participants (85.3%). Conclusion: The course of the COVID-19 infection in DMD patients was mild. Not enough patients with DMD and their families are vaccinated. Education about the management of COVID-19 infections and the vaccination procedure for DMD patients is needed and expected

Zaburzenia odżywiania i interwencje żywieniowe u chorych na dystrofię mięśniową Duchenne’a

Duchenne muscular dystrophy (DMD) is caused by the mutations in the dystrophin gene. It isthe heaviest myopathy with progressive, leading to premature death before 30 years of age.In DMD patients muscle atrophy results in adverse consequences in the functioning of manyorgans, including the digestive system. An essential part of caring for the DMD boys is themonitoring of nutritional status. Eating disorders in the initial phase of the disease involveexcessive body weight, caused by sterydotherapy and immobilization, while in subsequentstages of the disease arises from risk of malnutrition. The study shows the mechanismsand symptoms of nutrition disorders and the possibility of nutritional intervention in patientswith DMD.Dystrofia mięśniowa Duchenne’a (DMD) to wywoływana mutacjami w genie dystrofiny najcięższa miopatia o postępującym przebiegu, prowadząca do przedwczesnego zgonu przed 30. rokiem życia. U pacjentów z DMD zanik mięśni powoduje niekorzystne następstwa w funkcjonowaniu wielu narządów, w tym układu pokarmowego. Istotnym elementem opieki nad chorym jest monitorowanie stanu odżywienia. Zaburzenia odżywiania w początkowej fazie choroby dotyczą nadmiernej masy ciała, spowodowanej steroidoterapią i unieruchomieniem, podczas gdy na kolejnych etapach choroby powstaje ryzyko niedożywienia. W pracy przedstawiono patomechanizm i objawy zaburzenia odżywiania oraz możliwości interwencji żywieniowych u chorych z DMD

Generation of human induced pluripotent stem cell line derived from Becker muscular dystrophy patient with CRISPR/Cas9-mediated correction of DMD gene mutation

Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by in-frame deletions in the dystrophin gene (DMD), leading to progressive muscle degeneration and weakness. We generated a human induced pluripotent stem cell (hiPSC) line from a BMD patient. BMD hiPSCs were then engineered by CRISPR/Cas9-mediated knock-in of missing exons 3-9 of DMD gene. Obtained hiPSC line may be a valuable tool for investigating the mechanisms underlying BMD pathogenesis

The Role of Vitamin D and Vitamin D Receptor Gene Polymorphisms in the Course of Inflammatory Bowel Disease in Children

Background: The etiopathogenesis of inflammatory bowel disease (IBD) is still unclear. Prior studies suggest genetic components that may influence the incidence and severity of the disease. Additionally, it was shown that low levels of serum vitamin D may have an impact on the clinical course of the disease due to its effect on the immunological system. Methods: We aimed to investigate the correlation between the incidence of vitamin D receptor (VDR) gene polymorphisms (rs11568820, rs10735810, rs1544410, rs7975232, and rs731236, commonly described as Cdx2, FokI, Bsm, ApaI, and TaqI, respectively) and vitamin D concentration with the clinical course of IBD (disease activity, extent of the intestinal lesions). Data were obtained from 62 patients with IBD (34 with Crohn’s disease, 28 with ulcerative colitis), aged 3–18 years, and compared with controls (N = 47), aged 8–18 years. Results: Although there was no difference in the incidence of individual genotypes between the study groups (IBD, C) in all the polymorphisms examined, we described a significant increase in the chance of developing IBD for heterozygotes of Cdx2 (OR: 2.3, 95% CI 0.88–6.18, p = 0.04) and BsmI (OR: 2.07, 95% CI 0.89–4.82, p = 0.048) polymorphisms. The mean serum 25OHD level in patients with IBD was significantly higher compared with the controls (19.87 ng/mL vs. 16.07 ng/mL; p = 0.03); however, it was still below optimal (>30 ng/mL). Furthermore, a significant correlation was found between vitamin D level and TaqI in patients with IBD (p = 0.025) and patients with CD (p = 0.03), as well as with the BsmI polymorphism in patients with IBD (p = 0.04) and patients with CD (p = 0.04). A significant correlation was described between the degree of disease activity and genotypes for the FokI polymorphism in patients with UC (p = 0.027) and between the category of endoscopic lesions and genotypes for the Cdx2 polymorphism also in patients with UC (p = 0.046). Conclusions: The results suggest a potential correlation of VDR gene polymorphism with the chance of developing IBD, and the clinical course of the disease requires further studies in larger group of patients. Vitamin D supplementation should be recommended in both children with inflammatory bowel disease and in healthy peers

Association between uridin diphosphate glucuronosylotranserase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia

Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. Result: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. Conclusion: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia