BACKGROUND: Quality of life and survival in Cystic Fibrosis (CF) have improved dramatically, making family planning a feasible option. Maternal and perinatal outcomes in women with CF (wwCF) are similar to those seen in the general population. However, the effect of undergoing multiple pregnancies is unknown. METHODS: A multinational-multicenter retrospective cohort study. Data was obtained from 18 centers worldwide, anonymously, on wwCF 18-45 years old, including disease severity and outcome, as well as obstetric and newborn complications. Data were analyzed, within each individual patient to compare the outcomes of an initial pregnancy (1st or 2nd) with a multigravid pregnancy (≥3) as well as secondary analysis of grouped data to identify risk factors for disease progression or adverse neonatal outcomes. Three time periods were assessed - before, during, and after pregnancy. RESULTS: The study population included 141 wwCF of whom 41 (29%) had ≥3 pregnancies, "multiparous". Data were collected on 246 pregnancies, between 1973 and 2020, 69 (28%) were multiparous. A greater decline in ppFEV1 was seen in multiparous women, primarily in pancreatic insufficient (PI) wwCF and those with two severe (class I-III) mutations. Multigravid pregnancies were shorter, especially in wwCF over 30 years old, who had high rates of prematurity and newborn complications. There was no effect on pulmonary exacerbations or disease-related complications. CONCLUSIONS: Multiple pregnancies in wwCF are associated with accelerated respiratory deterioration and higher rates of preterm births. Therefore, strict follow-up by a multidisciplinary CF and obstetric team is needed in women who desire to carry multiple pregnancies.
- Klíčová slova
- Cystic fibrosis, Maternal outcome, Newborn health, Pregnancy, Pulmonary function,
- MeSH
- cystická fibróza * komplikace MeSH
- dospělí MeSH
- komplikace těhotenství epidemiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- parita MeSH
- předčasný porod epidemiologie MeSH
- progrese nemoci MeSH
- retrospektivní studie MeSH
- rizikové faktory MeSH
- stupeň závažnosti nemoci MeSH
- těhotenství mnohočetné MeSH
- těhotenství MeSH
- výsledek těhotenství * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
BACKGROUND AND OBJECITVES: The currently available kidney volume normative values in children are restricted to small populations from single-centre studies not assessing kidney function and including none or only a small number of adolescents. This study aimed to obtain ultrasound-based kidney volume normative values derived from a large European White/Caucasian paediatric population with normal kidney function. METHODS: After recruitment of 1427 children aged 0-19 years, 1396 individuals with no history of kidney disease and normal estimated glomerular filtration rate were selected for the sonographic evaluation of kidney volume. Kidney volume was correlated with age, height, weight, body surface area and body mass index. Kidney volume curves and tables related to anthropometric parameters were generated using the LMS method. Kidney volume predictors were evaluated using multivariate regression analysis with collinearity checks. RESULTS: No clinically significant differences in kidney volume in relation to height were found between males and females, between supine and prone position and between left and right kidneys. Males had, however, larger age-related kidney volumes than females in most age categories. For the prediction of kidney volume, the highest coefficient correlation was observed for body surface area (r = 0.94), followed by weight (r = 0.92), height (r = 0.91), age (r = 0.91), and body mass index (r = 0.67; p < 0.001 for all). CONCLUSIONS: This study presents LMS-percentile curves and tables for kidney volume which can be used as reference values for children aged 0-19 years.
- Klíčová slova
- Children, Kidney, Kidney volume, Normal references, Ultrasonography,
- MeSH
- dítě MeSH
- hodnoty glomerulární filtrace MeSH
- index tělesné hmotnosti MeSH
- kojenec MeSH
- ledviny * diagnostické zobrazování anatomie a histologie MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- referenční hodnoty MeSH
- tělesná hmotnost MeSH
- ultrasonografie * MeSH
- věkové faktory MeSH
- velikost orgánu 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
- multicentrická studie MeSH
- Geografické názvy
- Evropa MeSH
We present two cases from the neonatal department with cerebrospinal fluid examination. We revealed a striking discrepancy in polymorphonuclear (PMN) and mononuclear (MN) cell counts using conventional light microscopy in comparison with automated analyzer Sysmex XN-1000 (PMNs - 13 vs. 173x106/L, MNs - 200 vs. 67x106/L in case 1 and PMNs - 13 vs. 372x106/L, MNs - 411 vs. 179x106/L in case 2). We revealed the dominant presence of hemosiderophages in both cases in cytospin slide. Even though Sysmex XN-1000 offers fast examination with a low sample volume, there is possibility of misdiagnosis, with negative impact on the patient.
- Klíčová slova
- biochemistry, cerebrospinal fluid, cytology, hematology, neonatology,
- MeSH
- leukocyty mononukleární patologie cytologie MeSH
- lidé MeSH
- mikroskopie * metody MeSH
- mozkomíšní mok cytologie MeSH
- neutrofily cytologie patologie MeSH
- novorozenec MeSH
- počet leukocytů MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- srovnávací studie MeSH
Transphyseal fractures of the distal humerus are usually seen in children younger than 3 years of age and are considered as Salter-Harris Type I epiphysiolysis. Neonatal transphyseal distal humerus injuries are extremely rare. It usually occurs due to trauma during difficult labour but can also be seen after child abuse. Since the distal humerus is composed of cartilaginous tissue in newborns, it is difficult to make a diagnosis with direct radiography. Patients are often diagnosed with elbow dislocation. However, elbow dislocation is almost never seen under the age of 3 years. Transphyseal fractures can be seen as a result of manoeuvres performed to deliver the baby during difficult normal delivery. Transphyseal humeral injuries can also be seen after caesarean section, child abuse and falling on the hyperextended arm. Clinical symptoms include pain, swelling, ecchymosis and crepitation at the elbow. Pseudoparalysis is present due to pain. In children with a history of difficult birth or trauma, evaluation with direct radiography should be performed initially. Radiocapitellar line is distorted on radiographs and the elbow joint appears subluxated. The treatment algorithm for transfusional humeral fractures in neonates is varied. It should be remembered that patients in this age group have a tremendous healing capacity. In conservative treatment, 2-4 weeks of follow-up with a long-arm splint after reduction is sufficient. In addition, closed reduction-internal fixation or open reduction-internal fixation can be applied according to the amount of displacement of the fracture. Cubitus varus, osteonecrosis, growth disturbance, decreased range of motion, compartment syndrome, neurovascular injury and infection are the main complications seen after transfusional humeral fractures.
- MeSH
- fraktury distálního humeru MeSH
- fraktury humeru * chirurgie MeSH
- lidé MeSH
- loketní kloub chirurgie patofyziologie MeSH
- novorozenec MeSH
- poranění lokte MeSH
- porodní poranění novorozence MeSH
- rentgendiagnostika metody MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations. Lesions typically emerge during early childhood and often resolve spontaneously, obviating the need for treatment. This paper details the case of a child diagnosed with a solitary JXG on the sole, necessitating surgical excision due to its functional impairment, specifically a delay in walking and weight bearing.
- Klíčová slova
- foot, juvenile xanthogranuloma, pediatric, surgery, xanthogranuloma,
- MeSH
- juvenilní xantogranulom * chirurgie patologie MeSH
- lidé MeSH
- noha (od hlezna dolů) MeSH
- novorozenec MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: Cystic fibrosis (CF) is a rare multi-systemic recessive disorder. The spectrum and the frequencies of CFTR mutations causing CF vary amongst different populations in Europe and the Middle East. In this study, we characterised the distribution of CF-causing mutations (i.e. pathogenic variants in the CFTR gene) in a representative CF cohort from the Kingdom of Bahrain based on a three-decade-long analysis at a single tertiary centre. We aim to improve CF genetic diagnostics, introduce of CF neonatal screening and provide CFTR modulator therapy (CFTRm). METHODS: CFTR genotyping and associated clinical information were drawn from a longitudinal cohort. We sequenced 56 people with CF (pwCF) that had one or both CFTR mutations unidentified and carried out comprehensive bioinformatic- and family-based segregation analyses of detected variants, including genotype-phenotype correlations and disease incidence estimates. The study methodology could serve as a basis for other non-European CF populations with a high degree of consanguinity. RESULTS: Altogether 18 CF-causing mutations were identified, 15 of which were not previously detected in Bahrain, accounting for close to 100% of all population-specific alleles. The most common alleles comprise c.1911delG [2043delG; 22.8%], c.2988+1G > A [3120+1G>A; 16.3%], c.2989-1G>A [3121-1G>A; 14.1%], c.3909C>G [N1303K; 13.0%], and c.1521_1523delCTT [p.PheF508del; 7.6%]. Although the proportion of 1st cousin marriages has decreased to 50%, the frequency of homozygosity in our pwCF is 67.4%, thereby indicating that CF still occurs in large, often related, families. pwCF in Bahrain present with faltering growth, pancreatic insufficiency and classical sino-pulmonary manifestations. Interestingly, two pwCF also suffer from sickle cell disease. The estimated incidence of CF in Bahrain based on data from the last three decades is 1 in 9,880 live births. CONCLUSION: The most commonCF-causing mutations in Bahraini pwCF were identified, enabling more precise diagnosis, introduction of two-tier neonatal screening and fostering administration of CFTRm.
- Klíčová slova
- CFTR gene, Bahrain, CFTR modulator therapy (CFTRm), Cystic fibrosis, Mutations, Sequencing,
- MeSH
- alely MeSH
- cystická fibróza * genetika MeSH
- dítě MeSH
- dospělí MeSH
- genetické asociační studie metody MeSH
- genotyp MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mutace * MeSH
- novorozenec MeSH
- novorozenecký screening MeSH
- předškolní dítě MeSH
- protein CFTR * genetika MeSH
- Check Tag
- dítě MeSH
- dospělí 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
- Bahrajn MeSH
OBJECTIVES: Given the lack of data on the seriousness of respiratory syncytial virus (RSV) infections in the Czech Republic, an analysis was made of available data on hospitalizations and the hospitalization risk was estimated by age group. METHODS: Data from the National Registry of Reimbursed Health Services and the National Registry of Hospitalizations were used for the analyses. Hospitalizations and deaths due to RSV infection (diagnoses J12.1, J20.5, J21.0) from 2017-2022 were analyzed by age group. RESULTS: Over the six-year period, there were 6,138 hospitalizations with the above diagnoses, ranging between years from 307 to 2,162. The estimated overall hospitalization risk per 100,000 population and year for diagnoses J12.1, J20.5, and J21.0 was 9.64, varying between 2.87 (2020) and 20.56 (2021). Age-group analysis showed the highest risk for children under 6 months of age (891.6/100,000 population and year) and the lowest for 20-34-year-olds (0.1/100,000 population and year). Children under 1 year of age accounted for 63.1% of hospitalizations with the above diagnoses. For patients 65 years and older, the annual hospitalization rates varied between 3.3-15.3%. The most frequent cause of RSV-associated hospitalizations was bronchitis, diagnosed in 55.4% of patients. Among those hospitalized with diagnoses J12.1, J20.5, and J21.0, 38 deaths were reported, representing a case fatality rate of 0.62%. The highest case fatality rate (6.5%) was observed in the age group 35-49 years. CONCLUSIONS: RSV-associated hospitalizations have been reported in all age groups in the Czech Republic. The highest RSV-associated hospitalization risk in 2017-2022 was estimated among children under 6 months of age. Passive surveillance using the available registries could currently provide the basis for measures specifically tailored to the youngest age categories. Data on the hospitalization of adults, particularly senior citizens, must be improved and complemented with active surveillance.
- Klíčová slova
- Bronchiolitis, Bronchitis, death, deaths, hospitalization, pneumonia, respiratory syncytial viruses,
- MeSH
- dítě MeSH
- dospělí MeSH
- hospitalizace * statistika a číselné údaje MeSH
- infekce respiračními syncytiálními viry * epidemiologie mortalita MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- registrace MeSH
- senioři MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
AIM: Pinworm infection (known as enterobiasis or oxyuriasis) is one of the most common parasitic diseases globally and in the Czech Republic (CZ). The aim of this study is to analyse the available epidemiological data on the incidence of enterobiasis in the CZ from 2018-2022. METHODS: A descriptive analysis was done of enterobiasis (ICD-10 code B80) data reported to the electronic Infectious Disease Information System in the CZ from 2018 to 2022. Data processing and analysis were conducted using MS Excel 2016. Univariate and multivariate logistic regression analyses were performed to assess the association between the probability of hospitalization and categorical variables using STATA version 17. The ECDC Map Maker tool (EMMa) was used to create the incidence map. RESULTS: A total of 4,836 cases were reported during the study period, with an average annual incidence of 9.1 cases per 100,000 population. The highest number of cases occurred in 2019 (n = 1,174), and the lowest in 2021 (n = 780). The disease was most common in the paediatric population, with the highest average age-specific incidence rates observed in children aged 5-9 years (80.9 per 100,000 population) and 10-14 years (42.3 per 100,000 population). Of 14 administrative regions of the CZ, the Olomouc Region had the highest average annual incidence (28.7 per 100,000 population), while the Pilsen Region had the lowest (2.2 per 100,000 population). A total of 472 (9.8%) patients needed hospitalization, most of them in the categories 10-14 years (n = 200, 42.4%) and 5-9 years (n = 178, 38%). The highest hospitalization rate was found in the age group 75+ (36.4%). A significantly higher probability of hospitalization was found in the age groups 6-19 years and 65+ compared to working-age population with enterobiasis. A significantly lower probability of hospitalization was seen in 2020-2022 compared to 2019. No difference in the hospitalization rates was noted between genders. No enterobiasis-related death was reported during the study period. The disease occurs year-round. A decrease in reported cases was observed annually during the school summer holidays in July and August. Neither outbreak nor imported cases were noted. CONCLUSION: Given that enterobiasis is often asymptomatic, many cases are not captured in the surveillance system. The Czech prevalence data indicate that it mainly affects the paediatric population. Therefore, preventive measures and programs should primarily target children.
- Klíčová slova
- Enterobiasis – Enterobius vermicularis – oxyuriasis – parasitic diseases – epidemiology – children – Czech Republic – descriptive analysis,
- MeSH
- dítě MeSH
- dospělí MeSH
- enterobióza * epidemiologie MeSH
- hospitalizace statistika a číselné údaje MeSH
- incidence MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika epidemiologie MeSH
BACKGROUND: Orofacial clefts are the most common congenital abnormalities. Cleft lip reconstruction is performed mostly in 3 months of life including the neonatal period. The consumption of opioids during anesthesia is one of the monitored parameters of anesthesia safety. We investigated the effect of using an infraorbital nerve block for reducing opioid consumption during cleft lip surgery in neonates. PATIENTS/METHODS: Overall, 100 patients who underwent primary cleft lip surgery in neonatal age between 2018 and 2021 were included in the study. The primary outcome was to compare opioid requirements during cleft lip surgery with and without using regional anesthesia. Secondary outcomes included a first oral intake from surgery between neonates with and without regional anesthesia and complications rate of infraorbital nerve block. RESULTS: Data from 100 patients (46 patients with and 64 without regional anesthesia) were retrospectively analyzed and classified into two groups according to whether regional anesthesia during neonatal cleft lip surgery had been performed or not. The use of infraorbital block was found to be positively correlated with lower doses of opioids used during the general anesthesia for the surgery (mean 0.48 μg/kg vs 0.29 μg/kg, p < 0.05). The postoperative course was evaluated based on the interval from surgery to first oral intake which was statistically insignificant shorter (p = 0.16) in the group of patients using regional anesthesia. No complications were recorded in the group of patients with regional anesthesia. CONCLUSIONS: Regional anesthesia is associated with reduced opioid consumption during anesthesia thereby increasing the safety of anesthesia in neonates. GOV IDENTIFIER: NCT06067854https://clinicaltrials.gov/study/NCT06067854?cond=NCT06067854&rank=1.
- Klíčová slova
- Cleft lip, Infraorbital nerve block, Neonatal cleft lip surgery, Opioids in neonates, Regional anesthesia,
- MeSH
- lidé MeSH
- nervová blokáda * metody MeSH
- novorozenec MeSH
- opioidní analgetika * terapeutické užití MeSH
- pooperační bolest farmakoterapie prevence a kontrola MeSH
- retrospektivní studie MeSH
- rozštěp patra * chirurgie MeSH
- rozštěp rtu * chirurgie MeSH
- svodná anestezie * metody MeSH
- zákroky plastické chirurgie metody škodlivé účinky MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- opioidní analgetika * MeSH
Preterm, prelabor rupture of the human fetal membranes (pPROM) is involved in 40% of spontaneous preterm births worldwide. Cellular-level disturbances and inflammation are effectors of membrane degradation, weakening, and rupture. Maternal risk factors induce oxidative stress (OS), senescence, and senescence-associated inflammation of the fetal membranes as reported mechanisms related to pPROM. Inflammation can also arise in fetal membrane cells (amnion/chorion) due to OS-induced autophagy and epithelial-mesenchymal transition (EMT). Autophagy, EMT, and their correlation in pPROM, along with OS-induced autophagy-related changes in amnion and chorion cells in vitro, were investigated. Immunocytochemistry staining of cytokeratin-18 (epithelial marker)/vimentin (mesenchymal marker) and proautophagy-inducing factor LC3B were performed in fetal membranes from pPROM, term not in labor, and term labor. Ultrastructural changes associated with autophagy were verified by transmission electron microscopy of the fetal membranes and in cells exposed to cigarette smoke extract (an OS inducer). EMT and LC3B staining was compared in the chorion from pPROM versus term not in labor. Transmission electron microscopy confirmed autophagosome formation in pPROM amnion and chorion. In cell culture, autophagosomes were formed in the amnion with OS treatment, while autophagosomes were accumulated in both cell types with autophagy inhibition. This study documents the association between pPROMs and amniochorion autophagy and EMT, and supports a role for OS in inducing dysfunctional cells that increase inflammation, predisposing membranes to rupture.
