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 PDFObjective: To compare parameters of glycemic control among three types of hybrid closed loop (HCL) systems in children with T1D (CwD) using population-wide data from the national pediatric diabetes registry ČENDA.
Methods: CwD aged <19 years treated with Medtronic MiniMed 780G (780G), Tandem t:slim X2 (Control-IQ) or do-it-yourself AndroidAPS (AAPS) systems for >12 months and monitored by CGM >70% of the time were included. HbA1c, times in glycemic ranges, and Glycemia Risk Index (GRI) were used for cross-sectional comparison between the HCL systems.
Introduction: The aim of the study was to assess the differences in key parameters of type 1 diabetes (T1D) control associated with treatment and monitoring modalities including newly introduced hybrid closed-loop (HCL) algorithm in children and adolescents with T1D (CwD) using the data from the population-wide pediatric diabetes registry ČENDA.
Methods: CwD younger than 19 years with T1D duration >1 year were included and divided according to the treatment modality and type of CGM used: multiple daily injection (MDI), insulin pump without (CSII) and with HCL function, intermittently scanned continuous glucose monitoring (isCGM), real-time CGM (rtCGM), and intermittent or no CGM (noCGM). HbA1c, times in glycemic ranges, and glucose risk index (GRI) were compared between the groups.
Extraskeletal myxoid chondrosarcoma (EMC) is a rare sarcoma of uncertain lineage. Insulinoma-associated protein 1 (INSM1) has recently been described as a highly specific and sensitive immunohistochemical marker for EMC. The goal of this study was to evaluate the diagnostic significance of INSM1 immunohistochemistry in EMC.
View Article and Find Full Text PDFBackground: To explore type 1 diabetes incidence patterns during the pandemic years 2020 and 2021 in Czechia, to compare them to the trends from the previous decade, and to test its association with indicators of containment measures and of pandemic severity (school closing and the all-cause excess mortality).
Methods: The Czech Childhood Diabetes Register is a population-based incidence register recording patients age 0-14.99 years at diabetes onset.
Background: There are currently insufficient data on the population of endometrial epithelial stem/progenitor cells in farm animals.
Objectives: With the aim of identifying a potential population of epithelial stem/progenitor cells in the porcine and bovine endometrium, this study immunohistochemically examined the expression patterns of the oestrogen and progesterone receptors, as well as that of the embryonal stem cell marker SOX2.
Methods: A total of 24 endometrial tissue samples obtained from cycling pigs (n = 12) and cows (n = 12) were included in our study.
Aims/hypothesis: The proportion of children with type 1 diabetes (T1D) who have experience with low-carbohydrate diet (LCD) is unknown. Our goal was to map the frequency of LCD among children with T1D and to describe their clinical and laboratory data.
Methods: Caregivers of 1040 children with T1D from three centers were addressed with a structured questionnaire regarding the children's carbohydrate intake and experience with LCD (daily energy intake from carbohydrates below 26% of age-recommended values).
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the gene, only rarely in the gene, which gives rise to malformations in multiple organs. Bile duct paucity is the main characteristic feature of the disease.
View Article and Find Full Text PDFRecent findings indicate that men with premature ejaculation report more frequent sexual problems associated with increased anxiety and interpersonal difficulties. Bearing this in mind, the neuroendocrine changes were examined in men with premature ejaculation and compared to other indicators of stressful experiences to see whether there can be any correlation which could indicate how these factors may contribute to the aetiology of premature ejaculation. Our study comprised 60 male outpatients diagnosed as having secondary premature ejaculation.
View Article and Find Full Text PDFObjective: Increased access to modern technologies is not always accompanied by a decrease in HbA1c. The aim of this study was to identify changes in the proportion of continuous glucose monitoring (CGM) users since 2017, when general reimbursement for CGM became effective in Czechia, and to test whether HbA1c is associated with the percentage of time spent on CGM.
Research Design And Methods: All T1D children in the Czech national ČENDA registry (3197 children) were categorized according to their time spent on CGM and associations with age, sex, center size, and HbA1c were tested with calendar year as a stratification factor.
Primary urethral adenocarcinomas are very rare neoplasms accounting for <10% of all urethral carcinomas. Site of their origin is unclear, but they seem to arise from Skene's paraurethral glands, which is the female homologue of the male prostate. The aim of this article is to report the first case of Skene's gland adenocarcinoma in which a molecular genetic profiling was performed.
View Article and Find Full Text PDFBiomed Pap Med Fac Univ Palacky Olomouc Czech Repub
March 2021
Aim: Endometriosis is an inflammatory condition that shares a number of similarities with malignant diseases, such as an abnormal morphology, migration along the nerve bundles and metastatic spread to lymph nodes and distant organs. Endometriotic lesions are associated with oestrogen and progesterone imbalance which seems to play a key role in the pathogenesis of endometriosis. The aim of this study was to compare the status of both oestrogen and progesterone receptors in tissue of deep infiltrating endometriosis, lymph node endometriosis and atypical ovarian endometriosis using immunohistochemical methods, as well as to investigate the relationship between endometriosis and protein p53.
View Article and Find Full Text PDFNodular fasciitis (NF) is a benign self-limiting soft tissue lesion that has long been considered a reactive process. Recently, however, the USP6 gene rearrangement has been discovered, and the neoplastic nature of this tumor was suggested. Since then, many fusion partners of the USP6 gene have been reported, with the MYH9 gene as the most common.
View Article and Find Full Text PDFObjectives: The Czech National Childhood Diabetes Register (ČENDA) is a web-based nationwide database that collects treatment and outcome data in children and adolescents with diabetes. Here, we present data from the first 5 years of ČENDA (2013-2017).
Methods: Data include characteristics of disease onset and annual summaries of key clinical care parameters from every patient treated by participating pediatric diabetes outpatient clinics.
J Clin Res Pediatr Endocrinol
December 2016
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.
View Article and Find Full Text PDFPurpose: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as its associations with B12 vitamin parameters (holotranscobalamin - active vitamin B12, serum folate, total plasma homocysteine, and plasma methylmalonic acid concentration).
Patients And Methods: The group consisted of 51 PKU (n=29) and HPA (n=22) patients aged 3-48 years (28 children, 23 adults).
Results: A significant difference in serum folate levels was discovered between adult HPA patients and PKU patients (p=0.
Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalanine hydroxylase. It is treated with a low-protein diet containing a low content of phenylalanine to prevent mental affection of the patient. Because of the restricted intake of high-biologic-value protein, patients with phenylketonuria may have lower than normal serum concentrations of pre-albumin, selenium, zinc and iron.
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