Tento článek prezentuje nový doporučený klinický postup zaměřený na přístup k dětskému pacientovi s přítomností (či podezřením na přítomnost) cizího tělesa v gastrointestinálním traktu (GIT). Cílem práce bylo vytvořit algoritmus, který usnadní lékařům v prvním kontaktu s pacientem po požití cizího tělesa se rychle, přesně a efektivně rozhodnout o dalším diagnosticko-terapeutickém postupu. Pro usnadnění jsou cizí tělesa rozdělena do kategorií. Jednotlivé kategorie definují, jak moc bychom měli být ve svém přístupu aktivní. Zejména se jedná o identifikaci velmi rizikových situací nebo komplikací, a tedy rozhodnutí o neodkladném endoskopickém vyšetření, případně chirurgickém zákroku. Současně lze podle tohoto doporučení vyhodnotit, který pacient naopak nemusí být vůbec hospitalizován a může být sledován ambulantně. Algoritmus je navíc zpracován do grafického formátu, aby byl snadno a rychle dostupný v běžné praxi – na oddělení nebo v ambulancích, a pomohl tak k rychlému rozhodnutí a nalezení optimálního postupu pro konkrétního pacienta. Korespondující autor: MUDr. Michal Kubát Fakultní nemocnice v Motole V Úvalu 84/6 150 00 Praha 5 Michal.Kubat@fnmotol.cz

This article presents a novel recommended clinical approach focused on managing pediatric patients with the presence (or suspected presence) of a foreign body in the gastrointestinal tract (GIT). The objective of this work was to develop an algorithm that enables physicians at the initial point of contact with a patient who has ingested a foreign object to make rapid, accurate, and efficient decisions regarding the subsequent diagnostic and therapeutic steps. For the most effective approach, foreign bodies are categorized into different groups. These categories determine the level of clinical activity required, particularly in identifying high-risk situations or complications, thus guiding decisions on whether immediate endoscopic examination or surgical intervention is necessary. Simultaneously, this guideline allows for the assessment of patients who may not require hospitalization and can instead be monitored on an outpatient basis. Moreover, the algorithm is designed in a graphical format to be easily accessible in everyday practice – whether in hospital departments or outpatient clinics – thereby facilitating prompt decision-making and the identification of the optimal course of action for each specific patient.

• MeSH
• cizí tělesa * diagnostické zobrazování   klasifikace   komplikace   ošetřování   MeSH
• dítě MeSH
• gastrointestinální trakt * diagnostické zobrazování   zranění   MeSH
• lidé MeSH
• rentgendiagnostika břicha metody   MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• přehledy MeSH

BACKGROUND: The research on possible cerebral involvement in Crohn's disease (CD) has been largely marginalized and failed to capitalize on recent developments in magnetic resonance imaging (MRI). OBJECTIVE: This cross-sectional pilot study searches for eventual macrostructural and microstructural brain affection in CD in remission and early after the disease onset. METHODS: 14 paediatric CD patients and 14 healthy controls underwent structural, diffusion weighted imaging and quantitative relaxation metrics acquisition, both conventional free precession and adiabatic rotating frame transverse and longitudinal relaxation time constants as markers of myelination, iron content and cellular loss. RESULTS: While no inter-group differences in cortical thickness and relaxation metrics were found, lower mean diffusivity and higher intracellular volume fraction were detected in CD patients over vast cortical regions essential for the regulation of the autonomous nervous system, sensorimotor processing, cognition and behavior, pointing to wide-spread cytotoxic oedema in the absence of demyelination, iron deposition or atrophy. CONCLUSION: Although still requiring further validation in longitudinal projects enrolling larger numbers of subjects, this study provides an indication of wide-spread cortical oedema in CD patients very early after the disease onset and sets possible directions for further research.

• Publikační typ
• časopisecké články MeSH

In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023. A total of 58 Czech patients with undiagnosed diseases were enrolled in the study. All children underwent singleton WES with targeted phenotype-driven analysis. We identified 28 variants, including 11 pathogenic, 13 likely pathogenic, and 4 VUS according to ACMG guidelines, as diagnostic of genetic diseases in 25 patients, resulting in an overall diagnostic yield of 43%. Eleven variants were novel and had not been previously reported in any public database. The overall clinical utility (actionability) enabling at least one type of change in the medical care of the patient was 76%, whereas the average number of clinical implications to individual patient care was two. Singleton WES facilitated the diagnostic process in the Czech undiagnosed pediatric population. We believe it is an effective approach to enable appropriate counseling, surveillance, and personalized clinical management.

• MeSH
• dítě MeSH
• genetické testování metody   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• nediagnostikované nemoci * genetika   diagnóza   epidemiologie   MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• sekvenování exomu * metody   MeSH
• vzácné nemoci * genetika   diagnóza   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Parapharyngeal abscess in an infant is a very rare condition. We present the case of a 4-month-old girl with large masses on the neck's left side. Computed tomography showed an extensive parapharyngeal abscess. Left tonsillectomy was performed under general anesthesia from a transoral approach, followed by an incision and evacuation of the abscess from the parapharyngeal space. Microbiological analysis identified a massive occurrence of Streptococcus intermedius.

• MeSH
• absces * mikrobiologie   chirurgie   MeSH
• kojenec MeSH
• lidé MeSH
• nemoci faryngu mikrobiologie   chirurgie   MeSH
• počítačová rentgenová tomografie MeSH
• spatium parapharyngeum * chirurgie   diagnostické zobrazování   mikrobiologie   MeSH
• Streptococcus intermedius izolace a purifikace   MeSH
• streptokokové infekce * mikrobiologie   chirurgie   MeSH
• tonzilektomie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Malabsorpční syndromy představují rozsáhlou skupinu onemocnění, pro která je typická porucha intraluminálního trávení či vstřebávání živin. Klinicky se manifestují jako průjem, steatorea, nadýmání anebo neprospívání. Některé jednotky mohou být doprovázeny i specifickými příznaky, jako jsou např. otoky, paličkovité prsty a perianální exantém. Článek má za cíl na základě recentních poznatků malabsorpční syndromy přehledně klasifikovat a shrnout jejich etiologii, etiopatogenezi a klinickou manifestaci. Nedílnou součástí textu je rovněž přiblížení aktuálních diagnostických a léčebných postupů. V souladu se zaměřením rubriky budou diskutovány zejména nozologické jednotky s častějším výskytem. Vzácnější choroby (např. malabsorpce při reakci štěpu proti hostiteli) budou zmíněny jen okrajově a čtenáři budou poskytnuty recentní zdroje s podrobnějšími informacemi.

Malabsorption syndromes represent a large group of diseases characterized by impaired intraluminal digestion or nutrient absorption and typically manifest as diarrhea, steatorrhea, bloating and/or failure to thrive. Some diseases may be accompanied by specific symptoms such as oedema, digital clubbing and perianal exanthema. This article aims to classify malabsorption syndromes based on recent findings and summarize their etiology, etiopathogenesis and clinical manifestation. We review current diagnostic and therapeutic approaches. In accordance with the section in which the text will be published, frequent nosological entities will be discussed. Rarer diseases (such as malabsorption due to graft versus host disease) will be mentioned briefly, we direct readers to relevant and detailed sources.

• MeSH
• celiakie diagnóza   etiologie   komplikace   MeSH
• cholestáza diagnóza   etiologie   MeSH
• diferenciální diagnóza MeSH
• exsudativní enteropatie diagnóza   etiologie   komplikace   MeSH
• lidé MeSH
• malabsorpční syndromy * diagnóza   etiologie   farmakoterapie   klasifikace   patofyziologie   MeSH
• nemoci žaludku diagnóza   klasifikace   komplikace   patofyziologie   MeSH
• střevní sliznice patologie   MeSH
• žaludeční sliznice patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

• MeSH
• alkoholická pankreatitida etiologie   MeSH
• bolest MeSH
• chronická pankreatitida * etiologie   komplikace   patofyziologie   MeSH
• diabetes mellitus etiologie   MeSH
• exokrinní pankreatická insuficience etiologie   terapie   MeSH
• kouření tabáku škodlivé účinky   MeSH
• lidé MeSH
• malabsorpční syndromy MeSH
• management nemoci * MeSH
• nádory slinivky břišní etiologie   MeSH
• osteoporóza etiologie   MeSH
• pankreatin farmakologie   terapeutické užití   MeSH
• rizikové faktory MeSH
• sarkopenie etiologie   MeSH
• Check Tag
• lidé MeSH

INTRODUCTION: This simulation-based study aimed to evaluate the efficacy of ventilation during paediatric cardiopulmonary resuscitation (CPR) provided by healthcare professionals (HCPs) and lay rescuers (LRs). The objective was to assess the number of effective breaths delivered during the initial sequence of CPR. Effective ventilation plays a critical role during paediatric CPR as most cardiac arrests are secondary to hypoxia in origin. The recommendations on initial resuscitation in unresponsive, non-breathing children differ worldwide. The European Resuscitation Council (ERC) guidelines recommend five breaths before starting the chest compressions. Yet, this recommendation was based on the expert consensus historically and has not changed since 2000 because of the lack of evidence. This research addresses the identified knowledge gap, with potential implications for improving resuscitation practices and ultimately enhancing patient outcomes. METHODS: HCPs and LRs performed 90 s of CPR involving two mannequins: 5-kg Baby and 20-kg Junior. Both groups (HCPs and LRs) performed the task before and after structured CPR training, and the efficacy of ventilation before and after the training was compared. The HCPs provided bag-mask ventilation; LR performed dispatcher-assisted CPR with mouth-to-mouth ventilation. RESULTS: The number of participants that reached the primary outcome before and after the training in Baby was 26 (65%) vs. 40 (100%) in HCPs and 28 (60.9%) vs. 45 (97.8%) in LRs (improvement in both p < 0.001), respectively. The number of participants that reached the primary outcome before and after the training in the Junior mannequin was 31 (77.5%) vs. 32 (82.1%) in HCPs (p = 0.77) and 32 (82.1%) vs. 37 (94.9%) in LRs (p = 0.005), respectively. DISCUSSION: This simulation-based study is the first to investigate ventilation efficacy during paediatric CPR provided by HCPs and LRs. Ventilation represents an important aspect of good-quality CPR in children. The concept of initiating paediatric CPR with initial breaths, as stated in ERC guidelines 2021, is justifiable. Trained HCPs and LRs providing dispatcher-assisted CPR could deliver effective ventilation to paediatric mannequins. These findings can contribute to future research in this area and address identified knowledge gaps concerning resuscitation guidelines, given the unique practical application of simulation as a research tool.

• Publikační typ
• časopisecké články MeSH

BACKGROUND: Imperforate hymen is the most common congenital defect of the female urogenital tract. The spectrum of clinical manifestations is broad, ranging from mild cases undiagnosed until adolescence to severe cases of giant intraabdominal masses. The most common complication of hydrocolpos is bladder compression, resulting in obstructive uropathy and hydronephrosis. CASE PRESENTATION: We present here the case of a preterm neonate who was admitted to the surgical neonatal intensive care unit for bowel obstruction. The baby did not appear septic or unwell, a small amount of meconium passed frequently, and no bilious gastric residuals occurred. Based on these findings, acute abdominal obstruction was doubtful, and the surgeon chose a conservative (watch and wait) approach. Subsequently, we performed abdominal ultrasound and magnetic resonance imaging based on unclear information about a suspicious abdominal mass raised by the gynecologist shortly before the emergency C-section. The final diagnosis was congenital hydrocolpos due to imperforate hymen. The pediatric gynecologist indicated an incision of the imperforate hymen under general anesthesia. The incision resolved abdominal distention as well as the bowel obstruction. CONCLUSION: The presentation of hydrocolpos was not typical (no bulging in the vaginal introitus) in our case, and clinical symptoms implied acute bowel obstruction shortly after birth. The surgeon chose a conservative (watch and wait) approach as the baby did not appear unwell on the second day of life. Fortunately, diagnostic laparotomy was not required as the next step in bowel obstruction management. All clinical symptoms resolved after a minor surgical procedure.

• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Sepsis is one of the most common causes of death in patients admitted to intensive care units (ICUs). The development of sepsis is significantly influenced by genetic predisposition. In this study, we highlight a potential association between a variant of the fat mass and obesity-associated (FTO) gene and risk of sepsis in children and adolescents. METHODS: We investigated a first-intron tagging FTO polymorphism (rs17817449) by comparing a severe condition (SC) group, comprising 598 paediatric patients (ages 0-19 years) admitted to an ICU with fever, systemic inflammatory response syndrome (SIRS), sepsis, severe sepsis, septic shock, or multiple organ dysfunction syndrome (MODS), with a control group consisting of 616 healthy young adults. RESULTS: We observed a lower prevalence (p < 0.01; OR = 0.59, 95% CI = 0.39-0.87) of the FTO TT genotype in febrile and SIRS patients compared to patients with severe illness. There was a borderline trend towards a lower prevalence of the FTO TT genotype in the control group compared to the SC group (p < 0.09, OR = 0.81, 95% CI = 0.62-1.06). CONCLUSIONS: Our findings suggest that rs17817449, a common FTO polymorphism, may be a predictor of sepsis in paediatric patients, and that higher body weight is protective against this clinical complication.

• MeSH
• dítě MeSH
• gen pro FTO * genetika   MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• multiorgánové selhání genetika   MeSH
• novorozenec MeSH
• polymorfismus genetický MeSH
• předškolní dítě MeSH
• sepse * genetika   MeSH
• studie případů a kontrol MeSH
• syndrom systémové zánětlivé reakce genetika   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• Publikační typ
• abstrakt z konference MeSH