A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type CNS, which is inherited in an autosomal recessive manner. Symptomatic treatment with intravenous albumins, vitamins, minerals, nutritional, and hormonal supplementation and treatment of complications are mandatory. Children refractory to the symptomatic treatment are recommended to undergo nephrectomy and renal replacement therapy, preferably renal transplantation. We report on a child with Finnish type CNS with a NPHS1 mutation, which is the first case confirmed by genetic study in Slovenia. We showed for the first time that homozygous mutation c.2928-3del in the NPHS1 gene caused exon 22 skipping, leading to a truncated protein and Fin-minor phenotype

Opredelitev zapletov srčnih kateterizacij pri otrocih v Sloveniji

Izhodišča: Čeprav so srčne kateterizacije v primerjavi s kardiokirurškimi posegi manj invazivne, imajo manj zapletov, bolniki pa po njih hitreje okrevajo, te niso brez zapletov. Z raziskavo smo želeli ugotoviti značilnosti populacije, najpogostejše patologije, vrste kateterizacij, zaplete pri kateterizacijah v našem centru ter opredeliti morebitne dejavnike tveganja. Metode: Zbrali smo podatke o vseh pediatričnih srčnih kateterizacijah, opravljenih med junijem 2018 in avgustom 2021. Opredelili smo jih glede na vrsto kateterizacije (diagnostične in terapevtske), težo, starost, spol bolnikov in kompleksnost patologije. Zaplete smo ločili na lažje in težje ter z uporabo Pearsonovega testa hi-kvadrat in testa Mann-Whitney U ugotavljali njihovo povezanost z morebitnimi dejavniki tveganja. Rezultati: V tem obdobju je bilo opravljenih 191 srčnih kateterizacij (54 diagnostičnih in 137 terapevtskih) pri 175 otrocih, od tega pri 95 dečkih in 80 deklicah. Otroci so bili stari od nekaj ur do 18 let, tehtali so od 2,6 kg do 85,5 kg. Zabeležili smo 9 zapletov, od tega 5 težjih in 4 lažje. Z našo raziskavo nismo dokazali statistično pomembne povezave med dejavniki tveganja (telesna teža, spol, vrsta kateterizacije, starost, kompleksnost patologije) in pojavom zapletov. Zaključek: Največ kateterizacij je bilo opravljenih pri otrocih, starih med 1 letom in 10 let in tistih, ki so tehtali med 10 in 40 kg. Nekoliko več kateterizacij je bilo opravljenih pri dečkih. Najpogostejše so bile terapevtske kateterizacije. Pojavnost zapletov v našem centru je primerljiva z drugimi centri. Telesna teža, spol, starost otroka, vrsta kateterizacije in kompleksnost patologije v našem centru niso bili statistično značilno povezani s pojavom zapletov ob katerizaciji

Sentiment analysis using naive bayes for reviews of visitors to Padang City beach tourism after the COVID-19 pandemic

The COVID-19 pandemic has an impact on the economy of Padang City. To revive the economy, especially in the tourism sector, the government is trying to improve services to visitors so that the number of tourist visits increases again. As one of the efforts is to find out the opinion of tourists on the beach tourism area visited. This research aims to assist the Padang City government in knowing the positive or negative responses of tourists through the sentiment analysis process to the beach tourism they visit so that The Government of Padang City can determine the policies to be taken in connection with the reviews given by beach tourism visitors. By using reviews on Google Maps on the attractions of Air Manis Beach, Padang Beach, Pasir Jambak Beach, Nirwana Beach, and Pasir Putih Beach, clustering is carried out with the Naive Bayes classification algorithm. Based on the results of the analysis that has been done, 2 of the 5 beaches get negative reviews, namely Pasir Jambak Beach and Pasir Putih Beach which get negative values of 0.550 and 0.650

Knowledge gaps and future directions in cognitive functions in children and adolescents with primary arterial hypertension: A systematic review

Arterial hypertension (AH) among adults is known to be associated with worse cognitive outcomes. Similarly, children and adolescents with AH could be expected to underperform during neuropsychological evaluations when compared with healthy peers. Our aims were to review the existing literature on cognitive functioning among children and adolescents with primary AH and to identify what additional evidence may be needed to substantiate the impact of hypertension on poor cognitive outcomes in this population. We conducted a systematic review of articles in PubMed and Web of Science published before 17 January 2022, reporting on cognitive testing among children and adolescents with primary AH. From 1,316 records, 13 were included in the review-7 used battery-testing while other employed indirect measures of cognitive functions. Most of the studies reported worse results among individuals with AH. Results of two prospective trials suggested that cognitive functioning may improve after starting antihypertensive treatment. Ambulatory blood pressure monitoring was shown to be more strongly related to cognitive testing results than office measures of blood pressure. Significant confounders, namely obesity and sleep apnea, were identified throughout the studies. Our review indicates that evidence relating AH with poor cognitive functioning among youth is usually based on indirect measures of executive functions (e.g., questionnaires) rather than objective neuropsychological tests. Future prospective trials set to test different cognitive domains in children and adolescents undergoing treatment for AH are endorsed and should consider using standardized neuropsychological batteries as well as adjust the assessing results for obesity and sleep disorders

Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Abstract Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies

Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis

Background: A novel data-driven cluster analysis identified distinct pathogenic patterns in C3-glomerulopathies and immune complex-mediated membranoproliferative glomerulonephritis. Our aim was to replicate these observations in an independent cohort and elucidate disease pathophysiology with detailed analysis of functional complement markers. ----- Methods: A total of 92 patients with clinical, histological, complement and genetic data were involved in the study, and hierarchical cluster analysis was done by Ward method, where four clusters were generated. ----- Results: High levels of sC5b-9 (soluble membrane attack complex), low serum C3 levels and young age at onset (13 years) were characteristic for Cluster 1 with a high prevalence of likely pathogenic variations (LPVs) and C3 nephritic factor, whereas for Cluster 2-which is not reliable because of the small number of cases-strong immunoglobulin G staining, low C3 levels and high prevalence of nephritic syndrome at disease onset were observed. Low plasma sC5b-9 levels, decreased C3 levels and high prevalence of LPV and sclerotic glomeruli were present in Cluster 3, and patients with late onset of the disease (median: 39.5 years) and near-normal C3 levels in Cluster 4. A significant difference was observed in the incidence of end-stage renal disease during follow-up between the different clusters. Patients in Clusters 3-4 had worse renal survival than patients in Clusters 1-2. ----- Conclusions: Our results confirm the main findings of the original cluster analysis and indicate that the observed, distinct pathogenic patterns are replicated in our cohort. Further investigations are necessary to analyse the distinct biological and pathogenic processes in these patient groups

C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

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Lowe syndrome: case report

Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation