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.
View Article and Find Full Text PDFIntroduction: 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 () gene and risk of sepsis in children and adolescents.
View Article and Find Full Text PDFOur 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.
View Article and Find Full Text PDFObjective: The pathophysiological processes leading to epileptogenesis and pharmacoresistance in epilepsy have been the subject of extensive preclinical and clinical research. The main impact on clinical practice is the development of new targeted therapies for epilepsy. We studied the importance of neuroinflammation in the development of epileptogenesis and pharmacoresistance in childhood epilepsy patients.
View Article and Find Full Text PDFBackground: Cardiac-urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin-related gene expression. However, it is also highly expressed in other tissues and associated with various organ anomalies.
View Article and Find Full Text PDFEpidemiol Mikrobiol Imunol
January 2023
Acute gastroenteritis is commonly seen in pediatric clinical practice. It is a largely self-limited disease with a benign course. We present a case of teenager with gastroenteritis resulting in severe acute kidney injury.
View Article and Find Full Text PDFIntroduction: An increased incidence rate of cases of complicated pneumonia, reaching up to the stage of necrotizing pneumonia was observed at University Hospital Brno in the past period. The aim of this study was to perform a single-center retrospective analysis of patients with acquired inflammatory lung disease requiring surgical treatment, comprising a long-term follow-up group.
Methods: Patients hospitalized for community-acquired pneumonia and surgically treated in the years 2015-2019 were analyzed.
Esophageal atresia remains one of the most challenging congenital anomalies of the newborn. It can occur with or without tracheoesophageal fistula (TEF), and to date, there are still no universally recommended diagnostic procedures. The so-called H-type TEF is that without esophageal atresia, and its prevalence is lower than 5% of all TEFs.
View Article and Find Full Text PDFBiomed Pap Med Fac Univ Palacky Olomouc Czech Repub
November 2021
Background: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms.
View Article and Find Full Text PDFSpindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration.
View Article and Find Full Text PDFObjectives: Inflammatory bowel disease (IBD) is today a global disease, the incidence of which is growing in the pediatric population. This prospective study aims to decipher IBD incidence and its trend in a pediatric population through 16 years in the South Moravian Region of the Czech Republic.
Methods: We evaluated data concerning 358 pediatric patients with newly diagnosed IBD at University Hospital Brno, which is a gastroenterology center for the entire pediatric population (0-18 years) and cares for all pediatric IBD patients in the South Moravian Region (1,187,667 inhabitants).
The objectives of this study were to evaluate osseointegration of dental implant in the jaw bone in the young and elderly population and comparing the results to assess indicators and risk factors as age for the success or failure of dental implants. A retrospective study of 107 implants (Impladent, LASAK, Czech Republic) was prepared. The patients at implants surgery were divided in three groups.
View Article and Find Full Text PDFElectroencephalogr Clin Neurophysiol
February 1956
Trans Am Neurol Assoc
May 2003