Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic ...dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research.
Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
The aim of this study was to determine the annual incidence and geographic distribution of pediatric inflammatory bowel disease (IBD) in Croatia. This is a prospective, cohort, multicenter ...observational study based on the data obtained from the Croatian national registry for children with IBD. Children and adolescents younger than 18 years diagnosed with IBD, in time period between June 1, 2016, and May 31, 2017, were recruited. In total, 51 new cases were identified; 19 Crohn’s disease, 28 ulcerative colitis, and 8 IBD-unclassified. Male preponderance of all 3 types of the disease was noticed. The median age at diagnosis was 14.8 years. The calculated annual incidence of pediatric IBD per 100 000 persons per year was 7.05 (2.63 for Crohn’s disease, 3.87 for ulcerative colitis, and 0.55 for IBD-unclassified). A north to south gradient was observed with almost 2 times higher incidence in the northern region of the country.
Inflammatory bowel disease (IBD) presents a growing medical and epidemiological problem. In respect to patients, health-related quality of life (HRQOL) emerged as informative means to evaluate the ...impact of disease burden on health. The Short Health Scale (SHS), a disease-specific HRQOL instrument with only 4 questions (symptoms, functioning, worry, and general well-being), was demonstrated as valid, reliable, and responsive in adults. Aim of this study was to assess its psychometric properties in children with IBD.
In a multicentric prospective study, HRQOL was assessed in 104 children with IBD by generic (PedsQL) and disease-specific questionnaires (IMPACT-III (HR) and SHS), which were cross-culturally adapted for Croatian. Forty-one patients completed the questionnaires at the second visit 6 to 12 months later. Of them, 27 patients changed from remission to active disease or vice versa and were included in responsiveness to change analysis.
Patients in remission had significantly better scores for symptoms (P = 0.022) and functioning (P = 0.003) than those with active disease. Each of the 4 SHS questions was strongly correlated with the corresponding dimensions of PedsQL and IMPACT-III (HR) questionnaires (rs = 0.50-0.72, P < 0.001). Reliability was confirmed with Cronbach's α = 0.74. Patients who changed from remission to active disease or vice versa showed significant change in following SHS scores: symptoms (P = 0.032), functioning (P = 0.008), and worry (P = 0.021).
SHS appears to be valid, reliable, and responsive tool to measure HRQOL in children with IBD. Simplicity of use, compactness, and the possibility of immediate interpretation make SHS well suited for both clinical practice and research studies.
To assess the reliability and validity of IMPACT-III (HR), a disease-specific, health-related quality of life instrument in Croatian children with inflammatory bowel disease.
In a multicenter study, ...104 children participated in a validation study of IMPACT-III (HR) cross-culturally adapted for Croatia. Factor analysis was used to determine optimal domain structure for this cohort, analysis of Cronbach's alpha coefficients to test internal reliability, ANOVA to assess discriminant validity, and correlation with Pediatric Quality of Life Inventory, Version 4.0 (PedsQL™) using Pearson correlation coefficients to assess concurrent validity.
Cronbach's alpha for the IMPACT-III (HR) total score was 0.92. The most robust factor solution was a 5-domain structure: Symptoms, Concerns, Socializing, Body Image, and Worry about Stool, all of which demonstrated good internal reliability (α=0.60–0.89), but two items were dropped to achieve this. Discriminant validity was demonstrated by significant differences (P<0.001) in mean IMPACT-III (HR) scores between quiescent and mild or moderate-severe disease activity groups for total (148 vs. 139 or 125) and following factor scores: Symptoms (84 vs. 71 or 61), Socializing (91 vs. 83 or 76), and Worry about Stool (significant only between quiescent and moderate-severe groups, 90 vs. 62, respectively). Concurrent validity of IMPACT-III (HR) with PedsQL™ showed significant correlation, which was strongest when similar domains were compared.
IMPACT-III (HR) appears to be useful tool to measure health-related quality of life in Croatian children with Crohn's disease and ulcerative colitis.
Sažetak. Utjecaj vegetarijanske i veganske prehrane na zdravlje djece sve češće razmatraju ne samo pedijatri nego i drugi stručnjaci koji se bave zbrinjavanjem djece. Zato je cilj ovih smjernica, na ...temelju predočenih i sažetih znanstvenih dokaza o učinku vegetarijanske i veganske prehrane na zdravlje djece i adolescenata, iznijeti upute Hrvatskog društva za pedijatrijsku gastroenterologiju, hepatologiju i prehranu Hrvatskoga liječničkog zbora. Vegetarijanska, a posebice veganska prehrana, ne znači samo dokidanje mesa ili namirnica životinjskog podrijetla, već mora biti uravnotežena prehrana prilagođena djetetu. Ovakvo dijete iziskuje kontinuirani nadzor i ovlaštenog liječnika primarne zdravstvene zaštite i pedijatrijskog nutricionista, pri čemu obojica u tom pogledu moraju biti posebno educirani. Budući da ograničavanje broja namirnica koje dijete konzumira znatno povisuje rizik od nutritivnog deficita, roditelji koji se odluče na ovakvu prehranu i svi profesionalci koji zbrinjavaju ovu djecu moraju biti svjesni mogućih nutritivnih rizika koji su u dječjoj dobi puno viši nego u odraslih.
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.
Summary
Objective
To define reliable Doppler parameters in mural arteries of affected bowel loops for quantitative assessment of Crohn disease (CD) activity in pediatric population and compare ...Doppler parameters with Pediatric Crohn Disease Activity Index (PCDAI).
Patients and methods
Thirty-four pediatric patients (7 with inactive, 27 with active disease of different severity; 13 male and 21 female; mean age 13; range 7–18) with CD were prospectively evaluated by Doppler ultrasound (DUS) of affected bowel segments. Using semiquantitative color and power Doppler assessment of vascularization of thickened bowel wall and mesentery, patients were divided in four grades. Spectral measurements (peak systolic velocity (PSV), end diastolic velocity (EDV), resistance index (RI)) of mural arteries were compared with PCDAI.
Results
There was a significant difference in distribution of semiquantitative color values between inactive and active group. PSV and EDV values showed no significant difference between inactive and active group, while mean RI was significantly higher in the inactive group. RI was also significantly negatively correlated with PCDAI.
Conclusion
Intensity of color and power Doppler signals and RI measurement of mural arteries in thickened bowel wall is linked to CD activity and therefore might be of use in pediatric patients.
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