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Mikołaj Dopierała, Krzysztof Schwermer, Krzysztof Hoppe, Małgorzata Kupczyk, Krzysztof Pawlaczyk Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznan, PolandCorrespondence: Krzysztof Pawlaczyk, Email kpawlac@ump.edu.plIntroduction: Chronic kidney disease is a widespread medical problem that leads to higher morbidity, mortality, and a decrease in the overall well-being of the general population. This is especially expressed in patients with end-stage renal disease (ESRD) undergoing maintenance haemodialysis. Several variables could be used to evaluate those patients’ well-being and mortality risk. One of them is the presence of residual urine output.Materials and Methods: The study was conducted on 485 patients treated with maintenance haemodialysis. After enrollment in the study, which consisted of medical history, physical examination, hydration assessment, and blood sampling, each patient was followed up for 24 months. We used residual urine output (RUO) as a measure of residual renal function (RRF). The entire cohort was divided into 4 subgroups based on the daily urinary output ( 100mL to 500mL to 1000mL).Results: The data show that the mortality rate was significantly higher in groups with lower RUO, which was caused mainly by cardiovascular events. Also, patients with higher RUO achieved better sodium, potassium, calcium, and phosphate balance. They were also less prone to overhydration and had a better nutritional status. Preserved RRF also had a positive impact on markers of cardiovascular damage, such as NT-proBNP as well as TnT.Conclusion: In conclusion, preserving residual urine output in ESRD patients undergoing maintenance haemodialysis is invaluable in reducing their morbidity and mortality rates and enhancing other favourable parameters of those patients.Keywords: end stage renal disease, haemodialysis, residual urine output, cardiovascular risk, mortality

Objective: To show that adequate therapy for lymphoedema is able to restore ability to work. Materials and methods: The population of patients with primary lymphoedema registered in the university clinical centre diagnosed with primary or secondary lymphoedema and presumed by the national social institution as completely unable to work was selected for the retrospective analysis and divided into two groups. Group 1 consisted of 25 patients treated with a complex decongestive therapy programme daily for 3-6 weeks. The study population comprised 19 women and six men from 14 to 61 years of age (mean 31.5). In all 25 patients, complete inability to work was certified by the social institution before the treatment started. Group 2 consisted of 47 patients, 14 men and 33 women, aged from 26 to 71 years (mean 39 years) treated by so-called standard methods, who resigned from the proposed intensive treatment. In all 47 patients, complete inability to work was declared by the social institution before the treatment. Ability to work and oedema reduction were assessed by the treating physician. Results: The intensive phase of treatment succeeded in 3870-15,330 mL oedema reduction in Group 1. After the end of therapy, 21 patients were able to work or study without any limitation and patients returned to their regular professional activity. Among four others, two were on welfare for at least 10 years, for another one welfare was their only income and one person was receiving a social pension. In none of the patients from group 2 was any significant oedema reduction observed. Every patient from group 2 maintained the social pension due to ineffective treatment. Conclusions: Complex decongestive therapy is a very efficient form of treatment in advanced primary and secondary lymphoedema. It allows returning to work after a short period of temporary disability without the necessity of a social pension. [ABSTRACT FROM AUTHOR]

Wstęp: Jednym z najczęściej występujących powikłań po nakłuciu tętnic są tętniaki rzekome. W zależności od rodzaju zabiegu, trybu jego przeprowadzenia oraz od zastosowanej terapii przeciwzakrzepowej tętniaki rzekome wykrywane są u 0,02-9% chorych poddanych procedurom endowaskularnym. W leczeniu tego powikłania stosuje się wiele technik, z których największe znaczenie przypisuje się rożnym postaciom kompresji i leczeniu operacyjnemu. Ograniczona skuteczność ucisku oraz duże prawdopodobieństwo wystąpienia powikłań po leczeniu operacyjnym powodują wzrastające zainteresowanie zastosowania trombiny w zamykaniu tętniaków rzekomych. Celem poniższej pracy była ocena skuteczności czterech różnych technik zamykania tętniaków rzekomych tętnic udowych, tzn. ucisku opatrunkiem uciskowym, ucisku ręcznego lub głowicą ultrasonograficzną oraz wstrzyknięcia trombiny do jamy tętniaka. Materiał i metody: Ocenie poddano grupę 273 chorych, u których w następstwie wykonanego zabiegu endowaskularnego (166 zabiegów diagnostycznych i 107 zabiegów leczniczych, tzn. koronaroplastyki lub angioplastyki naczyń obwodowych) powstały tętniaki rzekome tętnic udowych. Punktem wyjścia tętniaków były: AFC (50%), AFS (14%), AFP (29%) i AIE (7%). Wszyscy chorzy pobierali co najmniej jeden lek zmniejszający krzepliwość krwi, w zdecydowanej większości kwas acetylosalicylowy oraz tiklopidynę. Po potwierdzeniu obecności tętniaka rzekomego w badaniu ultrasonograficznym wdrażano leczenie w postaci: opatrunku uciskowego utrzymywanego przez 24-48 h (grupa I, n = 142), celowanego ucisku ręcznego wykonywanego przez 1-2 h (grupa II, n = 94), ucisku głowicą ultrasonograficzną przez 30 min (grupa III, n = 23) lub wstrzyknięcie trombiny do jamy tętniaka (grupa IV, n = 47). Do ostrzyknięcia tętniaków trombiną zakwalifikowani zostali chorzy po nieskutecznej terapii uciskowej, stosowanej przez co najmniej 24 godziny (n = 31), z dużymi tętniakami (n = 6) lub z martwicą skóry nad tętniakiem (n = 11). Trombinę wstrzykiwano pod kontrolą ultrasonograficzną. Rutynowo w pierwszym wstrzyknięciu podawano 1 ml roztworu trombiny. Przy braku skuteczności podawano następnie 1 ml trombiny. Po upływie 24 h wykonywano badanie kontrolne. Przy obecności przepływu w jamie tętniaka procedurę powtarzano. Wyniki: Wykrzepnięcie tętniaków uzyskano odpowiednio u 23%, 76%, 5% i 94% chorych z poszczególnych grup. W grupie I obok niewielkiej skuteczności metody obserwowano niekorzystne następstwa ucisku w postaci martwicy skóry, zespołu ciasnoty wewnątrzpowięziowej oraz parestezji obwodowych. Ograniczenie skuteczności celowanego ucisku ręcznego było związane z lokalizacją wrót tętniaków na tętnicy biodrowej zewnętrznej lub głębokiej uda albo też uszkodzeniem bocznej lub tylnej powierzchni dowolnego odcinka tętnicy udowej. Niewielka skuteczność ucisku głowicą ultrasonograficzną wynikała z trudności odpowiednio długiego utrzymania głowicy nad wrotami tętniaka.… [ABSTRACT FROM AUTHOR]

Wstęp: Rekonstrukcja łożyska naczyniowego po usunięciu zakażonych protez naczyniowych za pomocą implantowanych in situ alogenicznych przeszczepów tętniczych jest jedną z alternatywnych i coraz szerzej stosowanych sposobów leczenia. Jednym z najczęstszych powikłań związanych z tą formą leczenia jest postępujące zwężenie zespoleń, prowadzące do pogorszenia warunków perfuzji obwodowej lub do wykrzepnięcia przeszczepów. Dotychczasowe obserwacje pozwalają przypuszczać, że jednym z powodów prowadzących do rozwoju tego rodzaju powikłań jest powstanie dysproporcji właściwości mechanicznych pomiędzy sąsiadującymi odcinkami naczynia biorcy a przeszczepem. Celem badania była przyżyciowa ocena zmian właściwości mechanicznych alogenicznych przeszczepów tętniczych implantowanych w środowisku zakażonym, przy uwzględnieniu nasilenia towarzyszącej implantacji reakcji immunologicznej. Materiał i metody: Badaniu poddano 58 chorych leczonych z powodu zakażenia protez naczyniowych. U wszystkich chorych usunięto zakażone protezy, wykonując jednoczasową rekonstrukcję łożyska za pomocą implantowanych in situ alogenicznych przeszczepów tętniczych. Jako materiałdo rekonstrukcji wykorzystano fragmenty tętnic pobrane od dawców wielonarządowych. W 50 przypadkach wykorzystano naczynia zamrożone w obecności 15% DMSO i przechowywane w ciekłym azocie. U 8 dalszych chorych implantowano naczynia „świeże". Właściwości mechaniczne ściany allograftów badano przyżyciowo za pomocą funkcji M-mode, głowicą liniową o częstotliwości 7,5-9,1 MHz aparatu Sonoline, firmy Simens. Dane uzyskane podczas dopplerowskiego badania jednowymiarowego oraz współistniejące wartości ciśnienia tętniczego umożliwiły określenie grubości kompleksu IM oraz całej ściany naczyniowej, średnicy zewnętrznej i wewnętrznej przeszczepu oraz rozciągliwość, podatność i współczynnik Younga przeszczepów. Badanie wykonano w 2. i 4. tygodniu oraz 2, 4, 6, 9, 12, 18, 24, 36 i 48 miesięcy po implantacji allograftów. Nasilenie towarzyszącej reakcji immunologicznej oceniono, określając występujące w czasie jakościowe i ilościowe zmiany stężenia białek ostrej fazy w surowicy (CRP, AGP, ACT, a2-M, Tf, Cp i AT) oraz subpopulacji limfocytów krwi obwodowej. Wyniki i wnioski: W długim okresie obserwacji w warunkach in vivo dominującymi zmianami właściwości mechanicznych są: stopniowe pogrubienie kompleksu IM, poszerzenie średnicy zewnętrznej i zwężenie średnicy wewnętrznej przeszczepów oraz ich znamienne usztywnienie. Istnieje wyraźna korelacja pomiędzy zakresem i zaawansowaniem zmian właściwości mechanicznych przeszczepów naczyniowych a częstością występowania późnych powikłań w ich funkcjonowaniu, tj. zwężenia zespoleń czy pogorszenia stanu perfuzji obwodowej.… [ABSTRACT FROM AUTHOR]

Copyright of Acta Angiologica is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Acta Angiologica is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Wstęp: Coraz częściej przyczyną powstawania tętniaków rzekomych są urazy jatrogenne, powstające podczas zabiegów endowaskularnych. W dotychczasowych analizach zajmowano się oceną różnych czynników ryzyka powstania tętniaków rzekomych, pomijając zagadnienie lokalizacji nakłucia tętnicy udowej. Celem niniejszej pracy była ocena wpływu miejsca nakłucia tętnicy udowej na ryzyko powstania tętniaków rzekomych. Materiał i metody: U 116 chorych planimetrycznie oceniono miejsce wprowadzenia cewników do tętnic udowych. U dalszych 352 chorych z podejrzeniem obecności powikłań naczyniowych po zabiegach endowaskularnych wykryto 273 przypadki tętniaków rzekomych, analizując miejsca ich wyjścia, ze szczególnym uwzględnieniem lokalizacji uszkodzenia naczynia w stosunku do poziomu podziału tętnicy udowej wspólnej. Wyniki: Nakłuciu poszczególnych odcinków tętnic w pachwinie, tzn. AIE w 2,7%, AFC w 77,5% oraz AFS i AFP w 19,8% przypadków odpowiadała lokalizacja wyjścia tętniaków w 5,7-8,2% (AIE), 48,4-61% (AFC) i 33,3-43,4% (tętnice poniżej podziału) w zależności od rodzaju zabiegu, tzn. diagnostycznego lub leczniczego. W przypadku wykonania przed zabiegiem ultrasonograficznego mapowania podziału AFC częstość wyjścia tętniaków z poszczególnych odcinków naczyń nie różniła się istotnie od częstości ich nakłucia, przy jednoczesnym istotnym zmniejszeniu częstości powstania tego powikłania. Wnioski: Przeprowadzona analiza wykazała, że prawdopodobieństwo powstania tętniaka rzekomego jest uzależnione od rodzaju nakłutej tętnicy w pachwinie. Ryzyko to znacząco wzrasta w przypadku nakłucia tętnicy biodrowej zewnętrznej oraz tętnic udowych poniżej poziomu podziału AFC, tzn. AFS lub AFP. Prostym zabiegiem mogącym istotnie graniczyဇ ryzyko powstania tego groźnego powikłania jest wcześniejsze mapowanie przebiegu dużych naczyń w pachwinie za pomocą badania dupleksowego. [ABSTRACT FROM AUTHOR]

Copyright of Acta Angiologica is the property of VM Medica-VM Group (Via Medica) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, and proteome-wide association studies in 2,170 IgAV cases and 5,928 controls, generated IgAV-specific maps of gene expression and splicing from blood of 255 pediatric cases, and reconstructed myeloid-specific regulatory networks to define disease master regulators modulated by the newly identified disease driver genes. We observed significant association at the HLA - DRB1 (OR=1.55, P=1.1×10 -25 ) and fine-mapped specific amino-acid risk substitutions in DRβ1. We discovered two novel non-HLA loci: FCAR (OR=1.51, P=1.0×10 -20 ) encoding a myeloid IgA receptor FcαR, and INPP5D (OR=1.34, P=2.2×10 -9 ) encoding a known inhibitor of FcαR signaling. The FCAR risk locus co-localized with a cis-eQTL increasing FCAR expression; the risk alleles disrupted a PRDM1 binding motif within a myeloid enhancer of FCAR . Another risk locus was associated with a higher genetically predicted levels of plasma IL6R. The IL6R risk haplotype carried a missense variant contributing to accelerated cleavage of IL6R into a soluble form. Using systems biology approaches, we prioritized IgAV master regulators co-modulated by FCAR , INPP5D and IL6R in myeloid cells. We additionally identified 21 shared loci in a cross-phenotype analysis of IgAV with IgA nephropathy, including novel loci PAID4, WLS , and ANKRD55 .

Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT)., Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect., Results: A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut - , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation., Conclusions: This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT., (© 2024. The Author(s).)

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course with first symptoms already appearing in young age. The disease causes a progressive multiple organ dysfunction affecting mostly the heart, kidneys and nervous system, eventually leading to premature death. Disease-specific management of FD includes enzyme replacement therapy with agalsidase α and β or pharmacological oral chaperone migalastat. Migalastat is a low-molecular-mass iminosugar, that reversibly binds to active site of amenable enzyme variants, stabilizing their molecular structure and improving trafficking to the lysosome. Migalastat was approved in the EU in 2016 and is an effective therapy in the estimated 35-50% of all patients with FD with amenable GLA gene variants. This position statement is the first comprehensive review in Central and Eastern Europe of the current role of migalastat in the treatment of FD. The statement provides an overview of the pharmacology of migalastat and summarizes the current evidence from the clinical trial program regarding the safety and efficacy of the drug and its effects on organs typically involved in FD. The position paper also includes a practical guide for clinicians on the optimal selection of patients with FD who will benefit from migalastat treatment, recommendations on the optimal selection of diagnostic tests and the use of tools to identify patients with amenable GLA mutations. Areas for future migalastat clinical research have also been identified., (© 2024. The Author(s).)

IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-diagnosed IgAN cases and 28,751 controls across 17 international cohorts. We defined 30 genome-wide significant risk loci explaining 11% of disease risk. A total of 16 loci were new, including TNFSF4/TNFSF18, REL, CD28, PF4V1, LY86, LYN, ANXA3, TNFSF8/TNFSF15, REEP3, ZMIZ1, OVOL1/RELA, ETS1, IGH, IRF8, TNFRSF13B and FCAR. The risk loci were enriched in gene orthologs causing abnormal IgA levels when genetically manipulated in mice. We also observed a positive genetic correlation between IgAN and serum IgA levels. High polygenic score for IgAN was associated with earlier onset of kidney failure. In a comprehensive functional annotation analysis of candidate causal genes, we observed convergence of biological candidates on a common set of inflammatory signaling pathways and cytokine ligand-receptor pairs, prioritizing potential new drug targets., (© 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.)

Introduction: The development of molecular biology methods and their application in microbial research allowed the detection of many new pathogens that cause urinary tract infections (UTIs). Despite the advances of using new research techniques, the etiopathogenesis of UTIs, especially in patients undergoing dialysis and patients after kidney transplantation, is still not fully understood., Methods: This study aimed to characterize and compare the composition of the bacterial element of the urinary tract microbiome between the groups of patients undergoing dialysis ( n = 50) and patients after kidney transplantation ( n = 50), with positive or negative urine culture, compared to healthy individuals ( n = 50)., Results: Asymptomatic bacteriuria was observed in 30% of the urine cultures of patients undergoing dialysis and patients after kidney transplantation, with Escherichia coli as the most dominant microorganism (73%) detected with the use of classical microbiology techniques. However, differences in the bacterial composition of the urine samples between the evaluated patient groups were demonstrated using the amplicon sequencing. Finegoldia , Leptotrichia , and Corynebacterium were found to be discriminative bacteria genera in patients after dialysis and kidney transplantation compared to the control group. In addition, in all of urine samples, including those without bacteriuria in classical urine culture, many types of bacteria have been identified using 16S rRNA sequencing., Discussion: The revealed microbial characteristics may form the basis in searching for new diagnostic markers in treatment of patients undergoing dialysis and patients after kidney transplantation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Jaworska, Pecyna, Jaskiewicz, Rydzanicz, Kaluzna, Pawlaczyk, Ploski, Nowak-Malczewska, Karolak and Gajecka.)

Several mechanisms have been suggested to explain positive cardiovascular effects observed in studies with sodium-glucose co-transporter 2 (SGLT2) inhibitors. The reduction in glucose reabsorption in proximal tubuli induced by SGLT2 inhibitors increases urinary glucose and sodium excretion resulting in increased osmotic diuresis and consequently in decreased plasma volume, followed by reduced preload. In addition, the hemodynamic effects of SGLT2 inhibition were observed in both hyper and euglycemic patients. Due to the complex and multidirectional effects induced by SGLT2 inhibitors, this originally antidiabetic group of drugs has been successfully used to treat patients with heart failure as well as for subjects with chronic kidney disease. Moreover, their therapeutic potential seems to be even broader than the indications studied to date.

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs. In contrast, in later-onset Fabry disease, patients have residual α-Gal A activity and clinical features are primarily confined to the heart. Individualized therapeutic goals in Fabry disease are required due to varying phenotypes and patient characteristics, and the wide spectrum of disease severity. An international group of expert physicians convened to discuss and develop practical clinical recommendations for disease- and organ-specific therapeutic goals in Fabry disease, based on expert consensus and evidence identified through a structured literature review. Biomarkers reflecting involvement of various organs in adult patients with classic Fabry disease are discussed and consensus recommendations for disease- and organ-specific therapeutic goals are provided. These consensus recommendations should support the establishment of individualized approaches to the management of patients with classic Fabry disease by considering identification, diagnosis, and initiation of disease-specific therapies before significant organ involvement, as well as routine monitoring, to reduce morbidity, optimize patient care, and improve patient health-related quality of life., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Context: Flaxseed has a characteristic fatty acids composition and unique phytonutrient profile that may have health-promoting properties., Objective: This study aimed to determine the effects of 10 weeks of supplementation with the flaxseed (28 g/day) on endothelial cells (EC) function, serum lipids and proinflammatory mediators in patients with mild and severe dyslipidaemia., Materials and Methods: Eleven lean patients with severe dyslipidaemia treated with apheresis (group 1; 10 weeks treated in four phases: (i) ordinary diet, (ii) ordinary diet + flaxseed, (iii) ordinary diet (wash out), (iv) ordinary diet + placebo) and eleven obese patients with mild dyslipidaemia-not treated with apheresis (group 2; 10 weeks treated in two phases: (i) ordinary diet, (ii) low fat diet + flaxseed). Flaxseed was given blindly. Serum was collected at the end of each phase of the study. ECs were exposed in vitro to the medium supplemented with pooled serum taken from patients from both groups to detect their morphological changes using light and electron microscopy. ECs proliferation was also measured at the end of each study phase., Results: Serum vascular endothelial growth factor was decreased after flaxseed supplementation but only in group 1. ECs proliferation was increased after flaxseed supplementation only in obese patients. ECs exposed to medium supplemented with obese patients' serum revealed the following cellular abnormalities: accumulation of lipid droplets, changes of rough endoplasmic reticulum and mitochondria, and flaxseed did not reverse observed changes. At the same time, flaxseed supplementation decreases total cholesterol in both tested groups, low-density lipoprotein cholesterol in group 1 and triglycerides in group 2., Conclusions: Our findings support the potential role of flaxseed in treating dyslipidaemia but indicate only a slight impact on endothelial cell function.

Background: The population of end-stage renal disease (ESRD) patients with diabetes mellitus (DM) may be at increased risk of protein energy wasting (PEW). The aim of the study was to investigate the impact of DM on selected indicators of PEW in the ESRD population that was undergoing maintenance hemodialysis (MHD)., Methods: A total of 515 MHD patients were divided into two subgroups with and without DM. The evaluation of diet composition, Charlson Comorbidity Index (CCI), SGA, and laboratory and BIS analyses were performed. All-cause and cardiovascular mortality was recorded., Results: DM patients had lower albumin (3.93 (3.61-4.20) vs. 4.10 (3.80-4.30) g/dL, p < 0.01), total cholesterol (158 (133-196) vs. 180 (148-206) mg/dL, p < 0.01), and creatinine (6.34 (5.08-7.33) vs. 7.12 (5.70-8.51) mg/dL, p < 0.05). SGA score (12.0 (10.0-15.0) vs. 11.0 (9.0-13.0) points, p < 0.001), BMI (27.9 (24.4-31.8) vs. 25.6 (22.9-28.8) kg/m 2 , p < 0.001), fat tissue index (15.0 (11.4-19.6) vs. 12.8 (9.6-16.0) %, p < 0.001), and overhydration (2.1 (1.2-4.1) vs. 1.8 (0.7, 2.7) L, p < 0.001) were higher in the DM group. Increased morbidity, reflected in the CCI and mortality-both all-cause and cardiovascular-were observed in DM patients., Conclusions: Hemodialysis recipients with DM experience overnutrition with a paradoxically higher predisposition to PEW, expressed by a higher SGA score and lower serum markers of nutrition. This population is also more comorbid and is at higher risk of death, including from cardiovascular causes.

Introduction: Cardiovascular mortality in patients with end-stage renal disease (ESRD) remains high despite advances in dialysis techniques. This can be attributed to several traditional and nontraditional risk factors. Overhydration seems to be one of the promising cardiovascular risk factors that could be targeted to improve survival. Objectives: We aimed to assess the effect of chronic overhydration as well as changes in the degree of overhydration over time on cardiovascular and all-cause morbidity and mortality in patients undergoing hemodialysis. Patients and methods: We enrolled 511 patients with ESRD undergoing hemodialysis. The hydration status was assessed with whole-body bioimpedance spectroscopy. Patients were divided into 4 subgroups according to baseline hydration status. Additionally, patients with at least 2 follow-up visits (n = 277) were classified into 4 subgroups according to changes in the hydration status over time. Results: Statistical analysis showed that male sex (P <⁠0.001), diabetes (P <⁠0.001), cardiac insufficiency (P <⁠0.001), smoking (P = 0.049), and cerebrovascular events (P = 0.007) were significant risk factors for overhydration. Cardiovascular toxicity of overhydration was reflected by elevated levels of N-terminal pro-B-type natriuretic peptide (P <⁠0.001) and cardiac troponin T (P <⁠0.001). Albumin and total cholesterol levels were the lowest in patients with severe overhydration (P <⁠0.001). Mortality was lower in patients with normal hydration status and mild overhydration (P <⁠0.001) as well as in those with stable low or descending overhydration pattern (P = 0.002). Conclusions: We showed that the degree of overhydration is significantly associated with the incidence of cardiovascular complications and prognosis in patients with ESRD undergoing hemodialysis.

Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme replacement therapy (ERT) for FD was available in all European Union countries except Poland.             We present the preliminary results of the first two years of reimbursed ERT in Poland. We obtained data from the seven largest academic centers in Katowice, Kraków, Wrocław, Poznań, Gdańsk, Warszawa, and Łódź. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics.             All centers returned completed questionnaires that included data for a total of 71 patients (28 men and 43 women) as of June 2021. Thirty-five patients with the diagnosis of FD confirmed by genetic testing (22 men and 13 women) had already qualified for reimbursed ERT. Mean (SD) age at the commencement of the ERT program was 39.6 (15.5) years (range 18-79 years). Mean time from the first clinical symptoms reported by the patients to the FD diagnosis was 21.1 (8.9) years, and the mean time from the final diagnosis of FD to the beginning of ERT was 4.7 (4.6) years.             FD is still underdiagnosed in Poland. To identify undiagnosed FD patients and to ensure that patients in Poland benefit fully from ERT, implementation of an effective nationwide screening strategy and close cooperation with a network of rare disease centers is advised., Competing Interests: Competing interests: M.N., J.S., M.K (Kusztal)., report consultation fees from Takeda and Sanofi Genzyme; M.K (Komar)., P.P. report consultation fees from Sanofi Genzyme, M.K (Komar)., P.P., M.N., K.P., K. M.-S and J.S. report speaker fees from Sanofi Genzyme, M.N. and M.K. report speaker fees from Amicus Therapeutics., (Copyright: © 2021 Nowicki M et al.)

Current therapy for Anderson-Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020-2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson-Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson-Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.