Celiac disease is a common gastroenterological illness. Current diagnostics of the disease are based on serological markers and histology of duodenal biopsies. Hitherto, a strict gluten-free diet is the only effective treatment and is necessary for good control of the disease. Serological tests in current use have very high specificity and sensitivity for diagnostics, but in follow-up they have some limitations. Their levels do not accurately reflect mucosal healing, and they are unable to detect minimal transgressions in the diet. This problem is significant in patients with IgA deficiency, and there exist no robust follow-up tools for monitoring these patients' adherence to treatment. For their follow-up, we currently use IgG-based tests, and these antibodies persist for a long time even when a patient has stopped consuming gluten. More accurate and specific biomarkers are definitely needed. Adherence to a gluten-free diet is essential not only for intestinal mucosa healing and alleviation of symptoms but also for preventing complications associated with celiac disease. Here, we summarize current evidence regarding noninvasive biomarkers potentially useful for follow-up not only of patients with IgA deficiency but for all patients with celiac disease. We describe several very promising biomarkers with potential to be part of clinical practice in the near future.
- MeSH
- bezlepková dieta MeSH
- biologické markery MeSH
- celiakie * MeSH
- deficience IgA * MeSH
- gluteny MeSH
- imunoglobulin A MeSH
- lidé MeSH
- následné studie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Celiakie neboli glutenová enteropatie je relevantním problémem moderní doby. Pro rozvoj nemoci jsou nezbytné tři předpoklady, a to genetická predispozice, konzumace lepku a environmentální faktory. Retrospektivní studie vedené napříč všemi věkovými skupinami vyloučily, že by za nárůstem prevalence byl pokrok v diagnostických metodách. Vzhledem k tomu, že je genetická predispozice v populaci víceméně konstantní, předpokládá se, že zásadní roli v nárůstu nemocných hrají vnější vlivy. V současné době je přijímán názor, že za nárůst onemocnění spojených s glutenovou intolerancí mohou moderní odrůdy pšenice, tento předpoklad ale vyvracejí analýzy současných i 100 let starých odrůd. Příčina by však mohla souviset s moderním životním stylem, změnami v technologiích přípravy potravin nebo jejich složení, narušením střevní bariéry při virovém onemocnění a dalšími faktory vedoucími ke střevní dysbióze. Možnou preventivní strategií by u predisponovaných jedinců mohlo být vynechání lepku ze stravy v době onemocnění, a to především v případě onemocnění virového původu. Tento článek přináší nový pohled na toto v současnosti časté autoimunitní onemocnění.
Celiac disease or gluten-sensitive enteropathy is a relevant health concern in today’s world. Three prerequisites need to be met to trigger the disease, namely a genetic predisposition, gluten consumption, and environmental factors. Retrospective studies conducted across all age groups have ruled out the possibility that improved diagnostic methods were behind the increased prevalence. Since the genetic predisposition is more or less constant in the population, it is assumed that external factors may play a major role in this increase. Although it is generally believed that modern wheat varieties are to be blamed for the increase in gluten intolerance-related diseases, this assumption is refuted based on the analysis of the current and 100-year-old varieties. However, the increased prevalence could be related to modern lifestyles, changes in food preparation technology or composition, disruption of the intestinal barrier in viral disease, and other factors leading to intestinal dysbiosis. A possible preventive strategy in predisposed individuals could be the avoidance of gluten from the diet when ill, especially with a viral infection. This article openup a new perspective on the currently common autoimmune disease.
- MeSH
- autoimunitní nemoci diagnóza etiologie klasifikace MeSH
- celiakie * diagnóza epidemiologie etiologie genetika patologie MeSH
- gluteny imunologie škodlivé účinky MeSH
- lidé MeSH
- prevalence MeSH
- střevní mikroflóra imunologie MeSH
- virové nemoci komplikace MeSH
- životní styl MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
Our goal was to identify highly accurate empirical models for the prediction of the risk of febrile seizure (FS) and FS recurrence. In a prospective, three-arm, case-control study, we enrolled 162 children (age 25.8 ± 17.1 months old, 71 females). Participants formed one case group (patients with FS) and two control groups (febrile patients without seizures and healthy controls). The impact of blood iron status, peak body temperature, and participants' demographics on FS risk and recurrence was investigated with univariate and multivariate statistics. Serum iron concentration, iron saturation, and unsaturated iron-binding capacity differed between the three investigated groups (pFWE < 0.05). These serum analytes were key variables in the design of novel multivariate linear mixture models. The models classified FS risk with higher accuracy than univariate approaches. The designed bi-linear classifier achieved a sensitivity/specificity of 82%/89% and was closest to the gold-standard classifier. A multivariate model assessing FS recurrence provided a difference (pFWE < 0.05) with a separating sensitivity/specificity of 72%/69%. Iron deficiency, height percentile, and age were significant FS risk factors. In addition, height percentile and hemoglobin concentration were linked to FS recurrence. Novel multivariate models utilizing blood iron status and demographic variables predicted FS risk and recurrence among infants and young children with fever.
- MeSH
- deficit železa * MeSH
- febrilní křeče * diagnóza etiologie MeSH
- horečka komplikace MeSH
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- studie případů a kontrol MeSH
- železo MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Kazuistika popisuje případ osmiletého chlapce, sledovaného od útlého věku pro polymorfní alergické projevy po setkání s neznámým spouštěčem. Opakovaným prováděním kožních testů byla u chlapce prokázána polyvalentní senzibilizace zejména vůči roztočům domácího prachu a obilné mouce. V korelaci s klinickými projevy imponujícími jako potravinová alergie byla pacientovi zavedena přísná eliminační dieta vedoucí na přechodnou dobu k uspokojujícímu zlepšení stavu. Po čtyřletém období klidu byl pacient pro recidivu obtíží odeslán k došetření potravinové alergie provedením expozičního testu moukou, který odhalil alergii nikoli na vlastní obiloviny, nýbrž na alergeny roztočů kontaminujících mouku. Tento klinický syndrom je v zahraniční literatuře zmiňován jako tzv. orální roztočová anafylaxe, vzhledem k charakteru reakcí v námi referovaném případě používáme označení orální roztočová alergie. Pro zmírnění rizika reakcí byl s výborným efektem doporučen soubor opatření pro snížení expozice alergenům roztočů ve stravě bez nutnosti striktní eliminace lepkových obilovin ze stravy. Cílem textu je rozšířit povědomí o méně obvyklé klinické prezentaci alergie na antigeny roztočů a poukázat na význam expozičního testu v diferenciální diagnostice potravinových alergií.
In this paper we report the case of an eight-year-old boy who was followed from an early age for polymorphic allergic symptoms after expo- sure to an unknown trigger. Repeated skin tests showed polyvalent sensitization, especially to house dust mites and wheat flour. In correlation with the clinical manifestations impressive as a food allergy, the patient was introduced to a strict elimination diet of grain products leading to a satisfactory improvement for a temporary period. After a four-year asymptomatic period, the patient was reffered for further investigation of food allergy by oral food challenge due to a recurrence of the symptoms. Oral food challenge revealed an allergy not to grain itself, but to the allergens of mites which contaminated flour. This syndrome is in foreign literature referred as oral mite anaphylaxis. In this case in accordance with relative low severity of reactions we use term oral mite allergy. To mitigate the risk of allergic reactions, a set of measures was recommended with excellent effect without the need for strict elimination of gluten grains from the diet. The aim of this case report is to increase awareness of the less common clinical presentation of allergy to mite antigens and to point out the importance of oral food challenge in the differential diagnosis of food allergies.
This was a prospective cohort study of eighteen patients with large and debilitating vascular malformations with one or more major systemic complications. In all patients, we discovered activating alterations in either TEK or PIK3CA. Based on these findings, targeted treatment using the PI3K inhibitor alpelisib was started with regular check-ups, therapy duration varied from 6 to 31 months. In all patients, marked improvement in quality of life was observed. We observed radiological improvement in fourteen patients (two of them being on combination with either propranolol or sirolimus), stable disease in 2 patients. For 2 patients, an MRI scan was not available as they were shortly on treatment, however, a clinically visible response in size reduction or structure regression, together with pain relief was observed. In patients with elevated D-dimer levels before alpelisib administration, a major improvement was noted, suggesting its biomarker role. We observed overall very good tolerance of the treatment, documenting a single patient with grade 3 hyperglycemia. Patients with size reduction were offered local therapies wherever possible. Our report presents a promising approach for the treatment of VMs harboring different targetable TEK and PIK3CA gene mutations with a low toxicity profile and high efficacy.
Přehřátí organismu v dětském věku může vyústit až do velmi závažného stavu. Děti nemají dostatečně vyvinutý systém termoregulace, a proto jsou více náchylné na změny vnějších teplot. V krajních případech se může jednat až o život ohrožující stav. Mezi tyto patří ponechání osamoceného dítěte v zamčeném autě v letních horkých dnech, kdy uvnitř automobilu může teplota vystoupat až nad 70 °C a stačí necelá hodina k tomu, aby došlo k šokovému stavu potenciálně vedoucímu až k úmrtí. Rovněž je nutná obezřetnost při sportovních aktivitách, kdy se často zapomíná na pravidelnou hydrataci a ochranu před sluncem. Cílem tohoto sdělení je zvýšit povědomí o této problematice a zlepšit edukaci rodičů nejen v primární zdravotní péči.
Body overheating in children can rapidly lead to a life threatening situation. Children are more susceptible to external temperature changes as their thermoregulation mechanisms are not yet perfectly developed. In extreme cases overheating can lead to a child's death. A lot of these cases are caused by leaving or forgetting a child in a locked car during hot summer days. The temperature inside the car can rise over 70 degrees centigrade and in under an hour the child can go into a severe shock. It is also necessary to make appropriate precautions such as sufficient hydration or sun protection during summer sport activities. In this article we aim to raise an awareness about this issue and improve the education of both medical and non-medical caregivers.
- Publikační typ
- abstrakt z konference MeSH
Interleukin (IL)-17 protects epithelial barriers by inducing the secretion of antimicrobial peptides. However, the effect of IL-17 on Paneth cells (PCs), the major producers of antimicrobial peptides in the small intestine, is unclear. Here, we show that the targeted ablation of the IL-17 receptor (IL-17R) in PCs disrupts their antimicrobial functions and decreases the frequency of ileal PCs. These changes become more pronounced after colonization with IL-17 inducing segmented filamentous bacteria. Mice with PCs that lack IL-17R show an increased inflammatory transcriptional profile in the ileum along with the severity of experimentally induced ileitis. These changes are associated with a decrease in the diversity of gut microbiota that induces a severe ileum pathology upon transfer to genetically susceptible mice, which can be prevented by the systemic administration of IL-17a/f in microbiota recipients. In an exploratory analysis of a small cohort of pediatric patients with Crohn's disease, we have found that a portion of these patients exhibits a low number of lysozyme-expressing ileal PCs and a high ileitis severity score, resembling the phenotype of mice with IL-17R-deficient PCs. Our study identifies IL-17R-dependent signaling in PCs as an important mechanism that maintains ileal homeostasis through the prevention of dysbiosis.
- MeSH
- antimikrobiální peptidy MeSH
- dítě MeSH
- dysbióza mikrobiologie MeSH
- ileitida * mikrobiologie MeSH
- ileum mikrobiologie MeSH
- interleukin-17 MeSH
- lidé MeSH
- mikrobiota * MeSH
- myši MeSH
- Panethovy buňky patologie MeSH
- receptory interleukinu-17 * genetika MeSH
- zánět patologie MeSH
- zvířata MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
