Gastroezofagealni refluks predstavlja vraćanje sadržaja želuca u jednjak, ponekad praćeno regurgitacijom i/ili povraćanjem. Refluks je patološki ako dovodi do značajnih (zabrinjavajućih) simptoma ...i/ili komplikacija (gastroezofagealna refluksna bolest, GERB). Simptomi refluksne bolesti nisu specifični, ovise o dobi djeteta i povezanost s refluksom je ponekad teško dokazati. U svakog djeteta sa simptomima refluksne bolesti i upozoravajućim znacima trebalo bi obradom isključiti mogući drugi uzrok tegoba. Višekanalna intraluminalna impedancija jednjaka koristi se u određivanju korelacije simptoma s refluksnim događajima, procjene učinkovitosti antisekretorne terapije i razlikovanja ne-erozivne refluksne bolesti, hipersenzitivnog jednjaka i funkcijske žgaravice. Pasaža probavnog sustava i ultrazvuk abdomena koriste se u isključivanju anatomskih anomalija. Ezofagogastroduodenoskopija s biopsijama sluznice glavna je pretraga za procjenu komplikacija refluksne bolesti i isključivanja druge bolesti sluznice gornjeg dijela probavnog sustava, a manometrija jednjaka u slučaju sumnje u poremećaj
motiliteta. Pokusna primjena inhibitora protonske pumpe (IPP) tijekom 4 – 8 tjedana moguća je u djece s tipičnim simptomima refluksne bolesti (žgaravica, retrosternalna ili epigastrična bol), ali se ne preporučuje u dojenčadi i djece s ekstraezofagealnim simptomima. Nefarmakološko liječenje refluksne bolesti uključuje zagušćivanje obroka, položajne mjere, modifikaciju volumena i učestalosti obroka i primjenu ekstenzivnog hidrolizata tijekom 2 – 4 tjedna u dojenčadi koja su na prehrani dojenačkim mliječnim pripravkom. Antacide/alginate ne bi trebalo koristiti za kronično liječenje dojenčadi i djece s refluksnom bolesti. Inhibitori protonske pumpe preporučuju se kao prva linija terapija erozivnog ezofagitisa povezanog s refluksom, a inhibitori H2-receptora u slučaju njihove nedostupnosti ili kontraindikacije za njihovu primjenu. Isključenje drugih uzroka tegoba preporučuje se u djece koja ne reagiraju na optimalnu terapiju tijekom 4 – 8 tjedana. Terapiju baklofenom trebalo bi razmotriti prije kirurškog liječenja nakon neuspjele primjene drugih farmakoloških mjera. Antirefluksnu operaciju (uključujući fundoplikaciju) trebalo bi razmotriti u djece sa životno ugrožavajućim komplikacijama refluksne bolesti nakon neuspjeha farmakološkog liječenja, refraktornim simptomima i u slučaju neophodne dugotrajne farmakoterapije GERB-a.
Aim
To analyse available breastfeeding data in Croatia and to describe the process of gathering, collecting, recording and reporting on them to the official institutions.
Methods
Infant nutrition ...data collected at maternity wards and infant nutrition data from primary health care units during the period 2005 to 2016 have been used. Descriptive statistics was used to analyse the data and to show the trends in breastfeeding. Results
More than 85% of newborns were exclusively breastfed in the maternity wards. Data on breastfeeding from primary health care showed growth in exclusive breastfeeding up to 2011, followed by a fall in 2013. From 2012, paediatric teams had the obligation to join information system (CEZIH), but electronic forms did not contain infant nutrition information. Similarly in the E-Newborn project (E-novorođenče) the question on the feeding method in the application was not designated as mandatory. Conclusion
The routinely collected data on breastfeeding did not allow us to draw any conclusion regarding breastfeeding trends in Croatia. In order to improve the process of gathering, recording and reporting data on breastfeeding to the proper authorities, it would be necessary to clearly align definitions, employ a uniform methodology, and upgrade the computer applications in primary health-care. Only then may the reports required for compulsory health insurance be obtained via the CEZIH, as well as the public health reports necessary to monitor preventive work in care of children's health, and monitoring public health indicators.
ObjectiveTo describe the characteristics of patients with cystic fibrosis-associated liver disease (CFLD), a complication of cystic fibrosis (CF) that is often asymptomatic until an advanced ...stage.MethodsRetrospective analysis included patients aged 0-20 years followed in 2018. at the Cystic Fibrosis Centre of the University Hospital Centre Zagreb. CFLD1 was diagnosed if ≥2 of the following were present: hepatomegaly and/or splenomegaly, elevated transaminases or gamma-glutamyl transferase (GGT) 3 times during 12 months, ultrasound signs of liver involvement or portal hypertension (PTH), suggestive pathohistological findings. Severe CFLD was defined as a disease with signs of PTH.Results61 patients with a mean age of 10.9 years (9 months-19 years, male: female = 34:27) were included. 9/61 (14.8%) of them had CFLD, 6 girls and 3 boys, aged 2-19 years (average age 10.7 years). They all had at least one F508del mutation, and 7/9 were homozygous. Regarding the severity of the disease, 4 patients (3 boys and 1 girl, 6-19 years) had a severe form of CFLD with PTH and presumed cirrhosis, which was confirmed by liver biopsy in one patient. Two patients also had impaired synthetic liver function, two had hypersplenism with platelet count <80x109/L, and one had esophageal varices without bleeding. The remaining 5/9 patients had mild CFLD with ultrasound changes (hyperechoic or nodular liver parenchyma, periportal fibrosis) and/or elevated liver enzymes.We observed a trend of poor nutritional status in patients with severe CFLD (mean BMI z-value -0.66, range -0.26 to 0.62) compared to those with mild form of CFLD (mean BMI z-value -0.41, range – 2.76 to 1.49), but the difference wasn’t significant, and the most severely malnourished patient had mild CFLD.We also assessed some noninvasive biomarkers of fibrosis: the APRI index was elevated (≥0.5) in all patients with severe CFLD and in one with mild CFLD, and Fibrosis-4 score was pathological in only one patient with PTH. Elastography was performed in 5 patients: it was normal in one patient with mild CFLD, whereas in four increased liver stiffness was found (significantly increased in two patients with severe CFLD, and mildly in two patients with mild CFLD).4/9 patients with CFLD had meconium ileus, which is approximately twice the frequency compared to all included CF patients.ConclusionThe diversity of clinical expression and findings in our patients is consistent with the literature data on the spectrum of CFLD manifestations. We confirmed a higher incidence of meconium ileus and severe mutations, and male dominance in CFLD with PTH. In all CF patients, liver disease should be actively sought from an early age (clinical examination once a year + abdominal ultrasound + AST, ALT, GGT).
This is a one-year follow-up study looking into the nutritional status and the rate of re-hospitalizations in children at the UHC Zagreb, Dept. of Paediatrics who were first evaluated during the ...nutritionDay (nDay) in November 2018. The aim is to evaluate the accuracy of STRONGkids questionnaires, subjective assessment within nDay survey and anthropometry in detecting malnutrition and possible relation to number of hospital admissions and disease outcomes (for oncology patients) within a year.The study included 50 patients (mean age 13.48 years ±3.79, 22 males) whose nutritional status was estimated in November 2018. Additional data were collected after the period of 12 months. Mann-Whitney U, Kruskal Wallis and Wilcoxon signed-ranks tests were applied.A significantly different BMI was found among subgroups categorized through the nDay survey (without risk, at risk, malnourished patients) and among subgroups assessed by STRONGkids (low, medium and high risk for malnutrition) (p1=0.002, p2=0.003, resp.). Post hoc tests showed that statistical significance could be contributed to differences between groups malnourished patients vs. those not at risk within nDay (p3=0.009) and between groups low vs. high and medium vs. high risk defined through STRONGkids questionnaires (p4=0.020, p5=0.004, resp.). In the one-year follow-up period, 28/50 children were re-hospitalized once or several times.The number of re-hospitalizations was significantly higher for children classified by STRONGkids to have high risk for malnutrition (p6=0.002), as well as for those categorized as malnourished through the nDay survey (p7=0.024). No significant difference in z-score BMI values was found between years 2018 and 2019 (Wilcoxon signed-rank test: p8=0.086).Re-hospitalized oncology patients (11) were additionally analysed in respect of their disease status: favourable outcome (disease regression; 8/11) vs.unfavourable outcome (progression or unchanged state; 3/11). No difference was observed in the initial BMI between these groups (Mann-Whitney U test: p9=0.921), and no significant change in their BMI during this period was observed in either group (Wilcoxon signed-rank test: p10=0.161, p11=0.593).Patients categorized as malnourished both with STRONGkids and nDay survey had significantly lower BMI than the rest of subjects. Our data support the hypothesis that malnourished patients have a higher rate of re-hospitalizations. Within the observational period, re-hospitalized patients neither improved nor worsened their nutritional status according to the BMI z-scores. We were not able to connect the nutritional status of oncology patients with their disease outcome after one year, perhaps due to a rather small sample or short time of follow-up.
Acute esophageal necrosis (black esophagus, Gurvits syndrome) is a rare clinical entity which leads to upper gastrointestinal bleeding. First description dates to 1990, with around115 cases described ...in the literature. The condition has pathognomonic endoscopic appearance characterized by circumferential black mucosa in the distal esophagus, and discontinuing abruptly at the gastroesophageal junction. The pathogenesis is unclear, apparently multifactorial mucosal ischemia due to low flow vascular state or microvascular thrombosis is predisposing to topical damage by gastric content reflux. It’s commonly seen in elderly men, with risk factors like diabetes, malignancy, alcohol consumption, shock, major surgery.Diagnosis is made endoscopically.Management requires hemodynamic stabilization, acid suppressive medication with avoidance of nasogastric tube placement. The condition has very poor prognosis, with mortality rate up to 35%, and various complications including strictures and stenosis, perforation with mediastinitis and abscess formation.Our patient, a 15 year old boy underwent surgery for scoliosis. During the immediate post surgical period he had hematemesis with consequent hemorrhagic shock. He was stabilized (IV fluids, packed red blood cells), nasogastric tube was inserted with evacuation of around 160 mL of blood and he was referred to our ICU. He required mechanical respiratory support and inotropic medications. Continuous parenteral PPI therapy was commenced.Black, charcoal-like content was draining from the nasogastric tube, with further deterioration in hemoglobin levels.Esophagogastroduodenoscopy showed black mucosa of lower esophagus, partly circumferential, partly linear, with cutoff at gastroesophageal junction.There were no radiological signs of esophageal perforation, bilateral lung consolidates were surrounded by ground-glass interstitial changes.Patient was kept NPO, on parenteral nutrition, with PPI and antibiotic treatment. He was weaned mechanical ventilation after three days, followed by brief stint of non-invasive respiratory support.Unfortunately, significant stenosis with stricture formed in the area overlying initial necrosis. After several attempts of endoscopic ballon dilatation, refractory strictures reemerged. Surgical gastrostomy was performed to enable sufficient enteral caloric intake, and bring the patient to ideal physical condition for further treatment.Planned colonic interposition surgery was not performed because of inadequate length of colon, hence thoracic surgeons performed retrosternal esophagogastroplasty Our patient had no further postoperative complications and was able to establish adequate oral feeding.Acute esophageal necrosis should be considered as one of the causes of upper gastrointestinal bleeding, especially because its high mortality and complications rate requires immediate and aggressive early management.
Celiac disease (CD) is an immune-mediated systemic inflammatory disease triggered by gluten ingestion in genetically predisposed individuals with a wide spectrum of sings and symptoms. Genetic ...predisposition is strongly associated with HLA-DQ2 and DQ8 heterodimers (HD), also related to a higher risk of occurrence in other autoimmune conditions.ObjectiveTo investigate clinical and immunogenetic characteristics of patients with celiac disease diagnosed in a tertiary center.The data collected retrospectively from medical records from 2008.-2018.included age at the time of diagnosis, clinical presentation, results of specific antibody testing, small bowel biopsy and HLA typing A total of 55 patients were enrolled, 29 females and 26 males (1.12:1), mean age 11.7 ± 4.62 years. A classical form of CD (diarrhea, abdominal distension, failure to thrive) was found in 22 patients, (mean age at diagnosis 3.41±3, 23 yrs, median 1, 88). 18 patients had an atypical, extraintestinal presentation (mean age 9.31±3, 86 yrs, and median 9 yrs).The asymptomatic disease was found in 15 patients, mainly with diabetes type I (T1D), (mean age 9,27±2,67yrs, median 9). Out of 39 patients who underwent HLA typing, 36 patients were positive for either single or double dose of DQ2.5 or DQ8 HD. Among three HD negative patients, one was geneDQB1*02 double dose positive (HD DQ2.2 homozygous), one was positive for DQA gene of DQ2.5 HD, while the third one was negative for all DQA or DQB genes from CD predisposing DQ HDs. A total of 17 patients positive at very high CD risk according to the presence of either DQ2.5 in double dose or heterozygous DQ2.5/DQ8 genotype or double DQB1*02 gene dose (DQ2.5/DQ2.2 genotype) were mainly asymptomatic. Furthermore, among 11 patients positive for DQ2.5/DQ2 or DQ2.5/DQ8 genotype (double HD dose), 7 were also T1D patients, while in the remaining 28 DQ2.5 or DQ8 heterozygous and HD negative patients, only 4 were diagnosed with T1D; the observed difference was statistically significant (p=0,004).In our group of CD patients, clinical presentation related to age was similar to the literature data, with typical gastrointestinal manifestation in the youngest patients. Considering HLA-DQ heterodimer frequency, our patients had a similar distribution to other European and non-European patients with CD. However, since the majority of children with either DQ2.5 homozygous genotype or DQ2.5/DQ8 heterozygous genotype were CD asymptomatic patients primarily diagnosed with T1D, we would like to emphasize the importance of screening for celiac disease in this group of patients.
To present patients with Crigler-Najjar syndrome type 1 (CN1). It is a rare autosomal recessive disorder with an incidence of 1: 1 000 000 live births, characterised by severe unconjugated ...hyperbilirubinemia which arises as a consequence of the absence of hepatic bilirubin uridine diphosphate glucuronosyl transferase(UGT1A1) activity.In the last 30 years we treated seven children with this syndrome at the Department of Pediatrics, University Hospital Center Zagreb.They were from five families- two pairs of siblings (brother and sister) and three unrelated patients (two boys and a girl). Genetic testing of UGT1A1 gene was performed in six patients (two pairs of siblings and two unrelated boys). Unfortunately, one patient’s result was lost.Three patients had frameshift mutations in exon 1: Patient 1 (c.722_723delAG p.Glu241Glyfs*16), Patients 2 and 3 were siblings and had identical mutation (c.717_718delAG p.Q239fsX256). Two patients (4 and 5, also siblings) had identical nonsense mutation in exon 3 (c.1021C>T p.Arg341*).Genetic testing, as it was not widely available at the time, was not performed in one girl whose diagnosis was made by the chromatographic analysis of bilirubin glucuronides in the bile.Four patients underwent a liver transplant from living related donors. In two auxillary procedure was performed (siblings at the age of 7 and 9 years) and in two segmental liver transplant (at the age of 6 and 10 years). Prior to surgery, there was also an unsuccessful attempt of hepatocyte transplantation in one patient.Three liver transplant procedures were successful, and one patient died in the early post-operative course due to primary graft dysfunction.Three patients who have not yet undergone liver transplant (a 3-year-old boy and two siblings 1.5-year-old girl and her 6-month-old brother) are currently treated with phototherapy. At least 10-14 hours long treatment is necessary to keep their bilirubin at an acceptable level (around 250 umol/L). Their psychomotor development is appropriate and they have no neurologic impairment.Considering the number of births per year in Croatia we noticed a remarkably high incidence of CN1, more than five times as expected (5,4: 1 000 000). We don’t have explanation for this finding, at least not by mutations observed. Nevertheless, three of our patients are offspring of two families originating in small Croatian enclave in Kosovo where they were isolated for several centuries. Perhaps there are epigenetic factors we are unaware of that may play a role and contribute to this unexpectedly high incidence.
Congenital disorders of glycosylation (CDG) is a large group of genetic metabolic diseases that usually affects many different organ systems. Glycosylation is a complex process regulated by a ...numerous enzymes that modify and transfer sugar residues to amino acid side chains.Over 150 different types of CDGs have been described. The most common are phosphomannomutase 2 (PMM2-CDG) and -1,3-glucosyltransferase deficiency (ALG6-CDG). Symptoms common to all CDGs are seizures, psychomotor delay, hypotonia, feeding disorders, liver disease and coagulopathy. Diagnosis is based on clinical presentation and sialotransferrin profiling and confirmed by gene analysis. Early diagnosis is critical in disorders for which specific therapy exists.Female infant was born from a third, uneventful pregnancy. Parents are not related and older siblings are healthy. Since birth, the infant was severely hypotonic and exhibited developmental delay, feeding disorder and failure to thrive. At the age of three months she was transferred to our Department for further work-up. At that time, she had low body weight (4314 g, 1.c) and was hypotonic with reduced spontaneous movements. We had noticed dysmorphic features- hypertelorism, micrognathia, abnormal ears, flattened nose, rhizomelic limbs, inverted mamillae and abnormal fat distribution. She was fed with elemental infant formula through the nasogastric tube. The patient had small intestine malrotation that manifested with recurrent vomiting which was resolved after surgical intervention. She developed thrombosis of the brain venous sinuses due to coagulopathy (low concentration of antithrombin III, protein C and coagulation factors IX and XI). She was also diagnosed with hypothyreosis and suffered from generalised oedema with hypoalbuminemia as a consequence of protein losing enteropathy, treated with albumin infusions. Protein losing enteropathy improved on elemental formula.Severe epilepsy was drug-resistant. Sialotransferrin profiling pointed towards a glycosylation defect (elevated di-sialotransferrins, lowered penta- and tetra-sialotransferrins). Gene analysis revealed biallelic mutations in the ALG6 gene, which codes for glycosilation enzyme -1,3-glucosyltransferase.ALG6-CDG has a recognizable phenotype characterised by hypotonia and proximal muscle weakness, extrapyramidal signs, pharmacoresistant epilepsy, coagulopathy, protein losing enteropathy and dysmorphic features. Described patients had poor prognosis. There is no specific therapy available. Early diagnosis is important to predict and treat symptoms and to stop diagnostic odyssey. It enables prenatal diagnostics in future pregnancies.
ObjectiveComparing the referral diagnosis as an indication for EGD with final histological diagnosis, and to assess whether it was justified to perform these endoscopies in our ...patients.MethodsRetrospective analysis of patients who underwent gastroscopy with biopsy in the period from 1.1.2016. to 29.02.2020 at the Clinical Hospital Center Zagreb. The study did not include foreign body removal procedures, follow up endoscopies and endoscopies for the purpose of placing medical orthopedic aids. We have described the symptoms leading to referral for endoscopy, as well as their average duration prior to endoscopy. We analyzed the correlation between referral and final histological diagnosis.ResultsIn a cohort of a total of 100 patients, the most common indication for gastroscopy in 24/100 (24%) was abdominal pain, and in approximately half of them (13/24, 54.2%) the histological cause of the discomfort was found (gastritis in 12 and celiac disease in 1). Of the 20 gastroscopies performed on suspicion of gastritis, in 12/20 (60%) pathological substrate was found (9 gastritis, 2 eosinophilic esophagitis, 1 celiac disease). Due to celiac disease suspicion, we endoscopied 18 patients, of whom in 10 (55.6%) celiac disease was histologically confirmed. In 6/11 (54.5%) patients with dyspeptic symptoms diagnosis of gastritis was made after the endoscopy. In almost half of the patients, the pathohistological finding was normal. From 52 pathological findings; 31/52 (59.6%) corresponds to gastritis, 12/52 (23.1%) to celiac disease, 5/52 (9.6%) to eosinophilic esophagitis, and in 2 patients (3.8%) esophageal varices and stomach polyps were found.The average duration of discomfort was 10 months and 26 days, while the largest number of patients; 17 of them had symptoms for a year, 16 had problems for 6 months, 9 had symptoms for 2 years, and 8 had symptoms for 1 and 3 months, respectively before the endoscopy. It should be noted that 10 were asymptomatic and were referred for endoscopy on the basis of pathological laboratory findings (complete blood count, iron, antibodies to tissue transglutaminase) or specific anamnesis (body weight loss, failure to thrive). Endoscopy completion rate by entering into the distal end of duodenum was 100%. We did not record any complications.ConclusionConsidering the nonspecific symptoms of the disease that greatly correlate with functional difficulties the number of negative findings is not surprising. But since gastroscopy is the most sensitive method of confirmation/exclusion of the disease itself it is clear that a high number of negative findings point to the necessity of developing clearer guidelines to avoid unnecessary endoscopies. Furthermore, comparing our results with the results of similar foreign studies we can say that we are within the world average and that this indeed is a global problem that requires team effort especially at a time when the number of endoscopic procedures grows rapidly every day due to increased endoscopic possibilities.
ObjectiveReevaluation of our experiences in adherence to the established local guidelines in our population of pediatric patients diagnosed with foreign body ingestion.MethodsA retrospective study of ...patients aged 0-18 years who were admitted to pediatric emergency department of the University Hospital Centre Zagreb between 1.1.2015. and 31.12.2019. due to suspected foreign body ingestion. We grouped them according to their age and localization of the foreign body along the digestive tract. We analyzed how many patients and with what success underwent endoscopy in relation to the applicable guidelines in our Institution.ResultsOf the 410 patients with suspected foreign body ingestion, a foreign body was found in 175 patients (x = 4 years ± 9 months), more common in male children (100/175). Most of them (78/175, 45%) were in the age group 3-7 years, followed by 1-3 year group (51/175, 29%). Foreign body was localized radiologically in 165 (94%), by endoscopy in 8 (5%) patients, while in the two patients localization hasn’t been determined, and there was also one spontaneous foreign body expulsion. Most common foreign bodies were coins in 61 children (35%), followed by another metal object in 51 (29%), button battery in 35 (20%) and plastic object in 7 (4%) patients. In 11 children (6%) it was food bolus impaction, and 10 of them swallowed other objects. Most foreign bodies were localized in the stomach (95 patients, 54%), followed by the small intestine (38 patients, 22%), the esophagus (27 patients, 15%) and the colon (9 patients, 5%). Two toothpicks were found in piriform sinus and tonsils. Endoscopy was performed in a third of patients (59/175; 34%), and it was successful (resulting in foreign body extraction) in 48 of them (81%). In 25/27 of patients with foreign body localized in the esophagus endoscopy was performed, while the two asymptomatic patients were observed. 7/8 patients with food bolus impaction were previously diagnosed with esophageal stenosis. According to guidelines, 41 endoscopies (70%) were warranted and 18 (30%) were not. We compared our results from this period (III) with the two previous ones: before the adoption of guidelines (I) and the early period following the introduction of guidelines (II). The following was shown: endoscopy in 67% of patients with foreign body ingestion with 77% success rate (I), endoscopy in 20% of patients with 90% success rate, and in 34% of patients with 81% success rate (III).ConclusionGlobal experiences suggest that endoscopic extraction is indicated in 10-20% of cases of all foreign body ingestions in children. In the study period, in one third of 34% of patients in which the endoscopy was performed, it was not indicated according to current guidelines. Despite the existence of guidelines, tenacity and the vigilance of adherence to them decreases over time. Their existence by itself is not sufficient in reducing children’s exposure to unnecessary and potentially harmful interventions.
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