BACKGROUND: There exist multiple extraintestinal manifestations of inflammatory bowel disease. The most common are arthritis, aphthous stomatitis, or uveitis. Aseptic abscess syndrome is not usually included among these extraintestinal manifestations. In our case report, we present a rare case of aseptic abscess syndrome as the first manifestation of inflammatory bowel disease. CASE PRESENTATION: We present the case of a 10-year-old girl whose only initial medical issue was recurrent submandibular lymphadenitis unresponsive to standard antibiotic therapy. A broad differential diagnosis was initiated to exclude an infectious etiology. Eventually, it was necessary to proceed with extirpation of the suspected lymph node. Histological examination showed suppurative granulomatous inflammation, so it was further examined for noninfectious cause. Blood tests revealed positivity of ASCA antibodies (Anti-Saccharomyces cerevisiae) in both IgA and IgG classes. Despite absence of typical gastrointestinal symptoms, bowel ultrasound was performed, followed by magnetic resonance enterography. Both showed inflammatory changes in the terminal ileum. Subsequent endoscopy of the gastrointestinal tract and histological examination of biopsy specimens confirmed a diagnosis of Crohn's disease with terminal ileum and rectum involvement. A standard treatment based on current guidelines led to remission without recurrence of lymphadenitis. CONCLUSIONS: In cases of lymphadenitis that does not respond to standard antibiotic treatment, diagnosis of aseptic abscess syndrome should be considered as a potential etiology and, subsequently, inflammatory bowel disease should be investigated, given that this syndrome is associated with inflammatory bowel disease in as many as 70% of cases. To our knowledge, this is the first published case report describing aseptic abscess syndrome affecting cervical lymph nodes as an extraintestinal manifestation of pediatric Crohn's disease.

• Klíčová slova
• Aseptic abscess syndrome, Crohn’s disease, Extraintestinal manifestation, Inflammatory bowel disease, Pediatrics,
• MeSH
• absces * etiologie   diagnóza   MeSH
• Crohnova nemoc * komplikace   diagnóza   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• lidé MeSH
• lymfadenitida * etiologie   diagnóza   MeSH
• syndrom MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Fourth branchial cleft anomalies are rare head and neck congenital lesions seen in children. They present as a neck inflammatory mass and arise essentially on the left side of the neck. We report the case of a 7-month-old female with a mass of the neck associated with respiratory distress. The mass was diagnosed as an incomplete fourth branchial cleft fistula. Surgical revision of the neck abscess from an external approach and plasma coblation of the orifice in the pyriform fossa by an endoscopic approach were performed.

• Klíčová slova
• endoscopic approach, fourth branchial cleft sinus, infant, laryngoscopy, plasma coblation, video fluoroscopy,
• MeSH
• absces * chirurgie   MeSH
• branchiální krajina * abnormality   chirurgie   MeSH
• kojenec MeSH
• kraniofaciální abnormality * chirurgie   diagnóza   MeSH
• krk chirurgie   MeSH
• lidé MeSH
• nemoci faryngu * chirurgie   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• 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.

• Klíčová slova
• Crohn’s disease, MRI relaxometry, brain oedema, diffusion tensor imaging, neuroinflammation,
• 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.

• Klíčová slova
• Rare genetic diseases, Undiagnosed patients, Whole-exome sequencing,
• 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

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.

• Klíčová slova
• child, genetic predisposition to the disease, genotype, obesity, sepsis,
• 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
• Názvy látek
• FTO protein, human MeSH Prohlížeč
• gen pro FTO * 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.

• Klíčová slova
• computed tomography, infant, parapharyngeal abscess, surgery,
• 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

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.

• Klíčová slova
• CPR, cardiopulmonary resuscitation, paediatric, simulation, ventilation,
• 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.

• Klíčová slova
• Bowel obstruction, Hydrocolpos, Imperforate hymen, Preterm neonate,
• Publikační typ
• časopisecké články MeSH

BACKGROUND & AIMS: Autoimmune pancreatitis (AIP) is an immune-mediated disease of the pancreas with distinct pathophysiology and manifestations. Our aims were to characterize type 1 AIP in a large pan-European cohort and study the effectiveness of current treatment regimens. METHODS: We retrospectively analyzed adults diagnosed since 2005 with type 1 or not-otherwise-specified AIP in 42 European university hospitals. Type 1 AIP was uniformly diagnosed using specific diagnostic criteria. Patients with type 2 AIP and those who had undergone pancreatic surgery were excluded. The primary end point was complete remission, defined as the absence of clinical symptoms and resolution of the index radiologic pancreatic abnormalities attributed to AIP. RESULTS: We included 735 individuals with AIP (69% male; median age, 57 years; 85% White). Steroid treatment was started in 634 patients, of whom 9 (1%) were lost to follow-up. The remaining 625 had a 79% (496/625) complete, 18% (111/625) partial, and 97% (607/625) cumulative remission rate, whereas 3% (18/625) did not achieve remission. No treatment was given in 95 patients, who had a 61% complete (58/95), 19% partial (18/95), and 80% cumulative (76/95) spontaneous remission rate. Higher (≥0.4 mg/kg/day) corticosteroid doses were no more effective than lower (<0.4 mg/kg/day) doses (odds ratio, 0.428; 95% confidence interval, 0.054-3.387) and neither was a starting dose duration >2 weeks (odds ratio, 0.908; 95% confidence interval, 0.818-1.009). Elevated IgG4 levels were independently associated with a decreased chance of complete remission (odds ratio, 0.639; 95% confidence interval, 0.427-0.955). Relapse occurred in 30% of patients. Relapses within 6 months of remission induction were independent of the steroid-tapering duration, induction treatment duration, and total cumulative dose. CONCLUSIONS: Patients with type 1 AIP and elevated IgG4 level may need closer monitoring. For remission induction, a starting dose of 0.4 mg/kg/day for 2 weeks followed by a short taper period seems effective. This study provides no evidence to support more aggressive regimens.

• Klíčová slova
• Autoimmune Pancreatitis, IgG4-Related Disease, IgG4-Related Pancreatitis,
• MeSH
• autoimunitní pankreatitida * farmakoterapie   diagnóza   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• steroidy terapeutické užití   aplikace a dávkování   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• steroidy MeSH