bluuebunny/crossref_metadata_2025_split huggingface dataset:
#5958 VALUE OF EXOME SEQUENCING “FIRST” FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
Authors: Dancer Marine , Bensouna Ilias , Robert Thomas , Mesnard Laurent 
Published: June 2023

Abstract

Background and Aims
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian kidney diseases, that can progress to end-stage kidney failure. Pathological variants in PKD1 or PKD2 genes are found in about 78% and 15% respectively. Additional variants in genes such as GANAB, DNAJB11, and ALG8/5 have been identified in ADPKD. The sequencing of PKD1 by short read sequencing technics with exome capture such as Exome sequencing (ES) has been describe as technically challenging given 6 pseudogenes with more than 98% homology in PKD1 exonic regions 1 to 33. Moreover, the presence of repeated motifs and GC-rich in PKD1/2 add difficulties. We study the relevance of exome sequencing (ES) “first-hand” during autosomal dominant polycystic kidney disease.

Method
ES was performed in 684 unrelated adult patients with kidney disease from the department of Nephrology of Sorbonne University, Paris, France. Genomic DNA was extracted and exonic coding regions (37 megabases) were enriched with the Twist Human Core Exome kit, and paired-end sequenced on NextSeq500 (Illumina) machine. Sequences were analyzed with in-house and the SeqOne v1.3,2019 pipelines according to GATK4 best practices. If necessary, co-segregation of pathological variants was studied by Sanger sequencing in relatives.

Results
Of the 684 patients, 143 had renal cysts. Pathogenic or probably pathogenic variations in the PKD1, PKD2, and DNAJB11 genes have been identified in 26 patients, all with cystic disease; with respectively 17 variants in PKD1, 6 variants in PKD2 and 3 variants in DNAJB11. In this cohort, 18.2% of the 17 pathogenic variants are reported in PKD1, and 14 (82%) are included in exons 1 to 33. All variants were eventually confirmed by Sanger sequencing without false positive. Moreover, in 5 of the 26 patients diagnosed (19%), meaningful additional genetic data have been found, falling either in CFTR, DHCR7, HFE, F8, or ACTA2 gene.

Conclusion
ES highlights PKD1 and PKD2 pathogenic variants detection without false positive. This strategy allowed us to provide appropriate genetic counseling (CFTR, DHCR7), as management of yet unexpected additional genetic diseases that can affect ADPKD (F8, HFE, and ACTA2) phenotype. Given these preliminary data, ES appears effective for PKD1/PKD2 variant detection, providing additional information for ADPKD management in 20% of cases.
#5959 CONSIDERABLE HEPARIN SAVINGS DURING 48 WEEKS OF HEMODIALYSIS WITH CITRATE-BUFFERED DIALYSIS BATH
Authors: Woitas Rainer Peter , Haarhaus Mathias , Capin Dario , Macário Fernando 
Published: June 2023

Abstract

Background and Aims
There are research data suggesting a citrate-buffered dialysis bath being superior to conventional acetate-buffered dialysis. Since Heparin may lead to bleeding complications and increased costs we focused on potential Heparin savings in a cohort of 100 dialysis patients who systematically were examined in a 48 weeks comprising timeframe using a citrate-buffered dialysis bath.

Method
Stable dialysis patients (n = 100, 30 females, mean age 70.7 yrs.) who were treated by high flux dialysis were switched from conventional acetate-buffered dialysis (3mmol/l acetate) to a citrate-buffered dialysis bath (0.8 mmol/l citrate, 0.3 mmol/l acetate; MTN, Neubrandenburg, Germany). After a 4 weeks run-in phase on the new dialysis bath the heparin-dosing was systematically reduced. Heparin was given as a single shot prior to the start of dialysis, the dialysate flow was set on 500 mL/min constantly. Heparin-dosing in the time course was assessed on the basis of the run-in phase.

Results
Average treatment time was 256 minutes per session and the average blood flow at baseline 361 mL/min and 254 minutes and 369 ml/min at the end of follow-up. The average Heparin-dosing at start of the observation period was 5450 IU/session, which could be reduced to 3909 IU/ session (71% of the starting dose, p&lt;0.01) after the first month of treatment and was further decreased to 3147 IU/session after 24 weeks treatment (58% of the initial dose, p&lt;0.01). In the next 24 weeks of observation no further reductions of Heparin-dosing were achieved (average Heparin dose after 48 weeks 3115 IU/session). In the week before reduction of Heparin we observed 2.2% of clotting episodes and 1.6% at week 48, respectively.

Conclusion
Despite a reduction of the initial heparin dose by 42% the number of clotting episodes did not increase during the 48 weeks observation period. Our data indicate that long-term treatment with a citrate-buffered dialysis bath is feasible, irrespective of considerably reduced heparin-dosing which may be beneficial for the patient but also interesting from a commercial view point. Further long-term studies are ongoing to assess clinical effects like calcification, morbidity, and mortality.
#5960 MORBIDITY AND MORTALITY OF SARS-COV-2 POSITIVE HOSPITALISED HEMODIALYSIS PATIENTS IN CASE OF CENTRALIZED ORGANIZATIONAL STRUCTURE IN HEALTHCARE
Authors: Hazoyan Armenuhi 
Published: June 2023

Abstract

Background and Aims
During the COVID epidemic, hemodialysis patients were a very serious vulnerable group due to the underlying kidney disease, many other comorbid health problems commonly present, the need for regular hospital visits even during the lockdown, and the high risk of staying with other patients in hemodialysis rooms, getting infected and subsequently high mortality. There are about 1000 patients with chronic hemodialysis in Armenia. All SARS-CoV-2 positive hemodialysis patients, regardless of the severity of the infection, were hospitalized in the largest multidisciplinary hospital center in the country, as it was the only dedicated hemodialysis service for SARS-CoV-2 positive cases in the country during the pandemic.

Method
Our prospective, observational study included about 1040 patients (Included re-infection) infected with the new coronavirus and hospitalized in one center between 01/04/2020 and 01/05/2022.

Results
The number of SARS-CoV-2 positive deaths was 183, which was 17.5% of those hospitalized. The number of re-infections was around 15%. A low level of vaccination of hemodialysis patients was recorded in the country, around 13,4%. During the first 6 months post-hospitalization, another 39 deaths were registered, which is 3.75% of those hospitalized. About 25,000 SARS-CoV-2 positive non-hemodialysis patients were hospitalized in the above period, and mortality in this population did not exceed 9% during peak epidemic and periods of maximum mortality.

Conclusion
Even with a centralized health care system, early hospitalization, close monitoring, and urgent access to multidisciplinary care, SARS-CoV-2 positive hemodialysis patients have a high mortality rate, the risk of which persists in the first 6 months of the post-hospital period and perhaps even longer, and this risk correlates also with low vaccination rates in this patients’ population.
#5993 KINETICS IN RENAL FUNCTIONAL RESERVE USING DTPA-CLEARANCE MEASUREMENTS
Authors: Valkova Kristyna , Figurek Andreja , Matter Laurenz , Lopez Kai Castrezana , Zitta Sabine , von Moos Seraina , Huellner Martin , Luyckx Valerie A , Schachtner Thomas , Mueller Thomas 
Published: June 2023

Abstract

Background and Aims
Kidneys have an intrinsic reserve capacity to respond to a higher workload by increasing filtration in their nephrons, called renal functional reserve (RFR). Despite the high clinical relevance of RFR, the necessary dynamic measurements are rarely done in the clinical routine, due to time- and workload as well as lack of standardized protocols.

Method
We developed a novel RFR protocol using 99mTc-DTPA (DTPA-Cl) before and after an oral protein load performed in an outpatient clinical setting within one day. Following a weak of low protein diet and using standardized hydration baseline and post-stimulation GFR were measured. 50 MBq activity were given i.v. at 0 and 240 mins, the plasma clearance was calculated based on the activity course at 13 time-points over 480 mins. RFR was expressed as the difference of post-protein stimulation peak mGFR to baseline mGFR in fasting state.

Results
In the pilot study we measured RFR in 7 healthy participants. The results showed a high heterogeneity. Therefore, we modified the study protocol for the next 16 patients by (a) extending the time of measurements to 330 min post-stimulation and (b) increasing the frequency of activity measurements to every 30 mins. In addition, we used a protein load of 1.5 g/kg bwt of beef protein. These standardized measurements showed inter-individual time differences in reaching the peak GFR values post-protein load, the peaks detectable between 150 to 270 mins after the protein meal. The mean RFR (±SD) was 14 (±13) ml/min/1.73 m2 corresponding to 16 (±15)% [Fig. 1]. All participants demonstrated a significant fall in DTPA-Cl 60 mins post-stimulation.

Conclusion
RFR can be measured with a same day pre- and post-stimulation DTPA-clearance protocol. Using a high oral load of beef protein and a long, post-stimulation period of measurements demonstrates inter-individual differences in reaching the hyperfiltration peak and a significant, previously not appreciated, post-prandial drop in GFR.
#6005 COMPARISON OF SEMAGLUTIDE ORAL VS SUBCUTANEOUS IN CHRONIC KIDNEY DISEASE (CKD)
Authors: Vidas Maria Marques , López Paula , Briales Paula Sanchez , Illazquez María Victoria López , Portoles Jose M 
Published: June 2023

Abstract

Background and Aims
The use of GLP-1 receptor agonist (ra) has become one of the cornerstones for CKD type 2 diabetic patients (T2DM) treatment. Oral formulation of semaglutide appeared as new therapeutical tool to increase the use of drugs with proved renal benefit. However, method of administration of the oral formulation and oral absorption limitations in CKD patients could adversely affect drug efficacy. The aim of this study was to compare the efficacy of semaglutide sbc vs oral in CKD patients

Method
Prospective, real-world study performed in T2DM-CKD patients with indication of initiation of GLP-1ra therapy in which semaglutide sbc or oral was initiated. Patients were assigned to sbc or oral formulation according to drug accessibility and patient preferences. Patients previously treated with any other GLP-1ra were excluded.

Results
70 patients were included, 50 with sbc and 20 with oral semaglutide with mean follow up time of 407 [180-753] and 154 [75.5-205] days respectively (mean, IQR) Basal characteristic of the patients are shown in the table. More male patients were included but age eGFR and UACR showed no significant differences between groups. 80% and 50% of the patients were on maximum semaglutide dose (1.0 mg sbc and 14 mg or respectively) and 12% and 45% were on the low dose (0.25 mg sbc and 3mg or respectively). We observed similar percentage of HbA1C reduction sbc: -6.2% [-10.8 a 0] and oral -6.2% [-11.5 a 0] (p 0.9). Differences on BMI and weight loss were slightly higher on sbc group though non-significant. We observed no significant effects on eGFR or UACr, nor on blood pressure during the observation period. and main side effect was gastrointestinal intolerance, similar in both groups (7 (14%) in subc and 3 (20%) in oral group, pv alue 0.9.

Conclusion
Oral formulation of semaglutide was equally effective in terms of glucose control and body weight in patients with T2DM and CKD even with more patients on the low-medium doses. Gi side effects were similar with both formulations though the lower number of patients on the higher oral dose does not allow further conclusions.
#6009 MUSCLE OXYGENATION AND MICROVASCULAR REACTIVITY ACROSS DIFFERENT STAGES OF CHRONIC KIDNEY DISEASE: A NEAR-INFRARED SPECTROSCOPY STUDY
Authors: Theodorakopoulou Marieta , Zafeiridis Andreas , Dipla Konstantina , Faitatzidou Danai , Koutlas Aggelos , Doumas Michael , Papagianni Aikaterini , Sarafidis Pantelis 
Published: June 2023

Abstract

Background and Aims
Previous studies in chronic kidney disease (CKD) showed that vascular dysfunction in different circulatory beds is progressively deteriorating with CKD severity. This study evaluated muscle oxygenation and microvascular reactivity at rest, during an occlusion-reperfusion maneuver, and during exercise in patients with pre-dialysis CKD versus controls, as well as between different CKD stages

Method
Continuous measurement of muscle oxygenation [tissue saturation index (TSI%)] via near-infrared-spectroscopy at rest, during occlusion-reperfusion, and during a 3-min handgrip exercise(at 35% of maximal-voluntary-contraction). Aortic pulse wave velocity (PWV) and carotid intima-media thickness (cIMT) were also recorded.

Results
Resting muscle oxygenation did not differ among the study groups (controls: 64.3±2.9 stage-2: 63.8±4.2stage-3a: 64.1±4.1 stage-3b: 62.3±3.3 stage-4: 62.7±4.3%; p = 0.6). During occlusion, no significant differences among groups were detected in TSIocl magnitude- and occlusion-slope. However, during reperfusion, theTSImax and the hyperemic response were significantly lower in groups of patients with more advanced CKD stages (controls: 11.2±3.7 stage-2: 8.3±4.6 stage-3: 7.8±5.5 stage-3b: 7.3±4.4 stage-4: 7.2±3.3; p = 0.04). During handgrip exercise, muscle oxygenation (TSIaverage-decline) was marginally lower in CKD patients than controls, but no significant differences were detected between CKD stages.

Conclusion
Although no differences were observed in muscle oxygenation at rest and during occlusion, the microvascular hyperemic response during reperfusion was significantly impaired in CKD and deteriorated in more advanced CKD stages. This impaired ability of microvasculature to respond to stimuli may be a crucial component of the adverse vascular profile of CKD patients and may contribute to exercise intolerance
#6032 LONG-TERM OUTCOMES IN A COHORT OF PATIENTS WITH SYSTEMIC VASULITIDES (SV) AND KIDNEY INVOLVEMENT
Authors: Petrakis Ioannis , Dermitzaki Kleio , Palamaris Kostas , Drosataki Eleni , Maragkou Sevasti Alexandra , Pleros Christos , Kroustalakis Nikos , Stayrakaki Ioanna , Gakiopoulou Harikleia , Stylianou Kostas 
Published: June 2023

Abstract

Background and Aims
Many randomized trials address the issue of SV therapy. Nevertheless, individualized treatment in patients with SV and renal involvement requires long term data and is often center specific. We present the experience of our center, a tertiary University hospital in Crete, Greece.

Method
Medical records were reviewed for clinical signs and symptoms. Statistical analysis was performed using SPSS 20 (IBM). Data were tested for normality, statistical significance was set at &lt;0,05. Chi-Square test, Student's T-Test, Multiple-Regression analysis were utilized for statistical analysis.

Results
We examined 58 patients (37 females) with a mean follow-up of 5 years (Range 1-31) and a mean age of 66 years (Range 12-102). Serology revealed 46 pANCA+ve (79%), 8 cANCA+ve (14%) and 4 p/c ANCA negative patients (7%). Nine patients lost renal function and 16 patients died during follow-up. All patients received immunosuppressive induction therapy (Cyclophosphamide N = 42, Rituximab N = 7, Steroid monotherapy N = 9). All patients with pulmonary hemorrhage underwent plasmapheresis. The severity of clinical manifestation was associated with need for plasmapheresis and rapid renal function deterioration. Plasmapheresis resulted in the remission of pulmonary hemorrhage in all patients. Renal death was associated with renal function decline in months 1 and 6 post diagnosis. Treatment with cyclophosphamide or rituximab did not affect outcome (death or renal death). Number of relapses (14 patients), surprisingly, was not associated with renal function deterioration. Death was not associated with renal function deterioration in months 1 and 6 post diagnosis. Loss of Follow up was associated with increased mortality.

Conclusion
In this cohort either cyclophosphamide or Rituximab does not seem to affect prognosis. plasmapheresis efficiently contains pulmonary hemorrhage and, as expected, loss of follow-up is associated with poor outcomes.
#6070 PREDICTIVE MODEL OF OBSTETRIC ACUTE RENAL FAILURE IN THE INTENSIVE CARE UNIT
Authors: Hafiani Yassine , Erragh Anas , Nabih Ibtissam , Khalayla Mohammad , Moussaid Ihsane , Elyoussoufi Smael , Salmi Said 
Published: June 2023

Abstract

Background and Aims
Obstetric acute renal failure (OARF) remains a frequent and serious complication that engages the maternal and fetal prognosis. The objective of our work is to develop a predictive model of obstetric acute renal failure in the intensive care setting.

Method
To meet our objective we conducted a retrospective comparative and analytical study spread over a period of 7 years, from January 2014 to September 2021 within the obstetric resuscitation department of ABDERRAHIM HAROUCHI hospital of CHU Ibn Rochd of Casablanca. We have thus distinguished two groups of parturients:
• Group 1 “ OARF + ” : parturients with ARF (n = 863)
• Group 2 “ OARF -” : parturients without ARF (n = 1856

Results
During this period 2719 obstetric admissions in intensive care were collected including 863 cases of ARF that we classified according to the KDIGO classification with a percentage of stages I, II and III respectively of 45.2%, 28.5% and 25.3% of cases. The average age of our OARF+ sample was 28.6±5.4 years. 40% of the parturients in this group were primiparous and 60% were multiparous, with the majority of cases occurring between 20 and 28 weeks' gestation (32%). OARF was associated with pre-eclampsia in 57% of cases, hemorrhagic shock in 37.19% of cases and severe sepsis in 31.74% of cases. Extra renal purification was necessary in 148 parturients (17.2%) and the mortality rate in the OARF+ group was 26.18%.
In univariate analysis, the clinico-biological risk factors for the occurrence of obstetric ARF were haemostasis disorders (p &lt; 0.001), hypertension (p &lt; 0.001), oligo-anuria (p = 0.002), severe anaemia (p &lt; 0.001) and thrombocytopenia (p &lt; 0.001). As for the etiological factors, our analysis allowed us to retain pre-eclampsia (p &lt; 0.001), hemorrhagic shock (p &lt; 0.001), sepsis (p &lt; 0.001), Hellp Syndrome (p = 0.002) and DIC (p = 0.002).

Conclusion
Pre-eclampsia, pre- and postpartum hemorrhage, and sepsis represent the main etiologies of obstetric ARF, which is a frequent obstetric complication in the ICU setting and responsible for significant maternal morbidity and mortality. The determination of the risk factors for the occurrence of such a complication allowed us to detect and prevent the patients at risk.
#6075 GENDER DISPARITIES IN HEMODIALYSIS PATIENTS: WORKING LIFE, MENTAL STATUS AND PHYSICAL CAPACITY
Authors: Yıldırım Saliha , Albayrak Haluk Cihad , Helvacı Özant , Erten Yasemin , Derici Ulver , Ayli Deniz , Duranay Murat , Guz Galip 
Published: June 2023

Abstract

Background and Aims
Globally, there are more women with chronic kidney disease (CKD) then man, but there are disparities in even receiving dialysis treatment. Gender disparity is a common problem in many fields. In this study, we aimed to determine the gender disparities in a sample of Turkish hemodialysis patients in the terms of working life, symptoms, depression, dementia and physical activity.

Method
219 patients (ages 18–65 years) were included in this study. Demographic characteristics, laboratory parameters and social status were recorded. All participants completed the Beck depression scale, standardized mini-mental test, physical activity score and a questionnaire consisting of symptoms related to hemodialysis.

Results
132 male and 87 female patients were included in this study. Male patients and female patients were statistically similar in the terms of age (p = 0.604), CKD vintage (p = 0.226), RRT vintage (0.559) and laboratory parameters (p &gt; 0.05). Weakness (p &lt; 0.001), palpitation (p &lt; 0.001), chest pain (p = 0.015), hypotension (p &lt; 0.001), myalgia (p &lt; 0.001) and forgetfulness (p = 0.002) were more common in female patients. Serious depression was similar in the two groups (p = 0.525) while physical inactivity (p = 0.022) and dementia (p = 0.024) were more often in female patients. Unemployment was more in the female group (p &lt; 0.001) although willingness to work is similar in both groups and female patients had a low salary than male patients (p = 0.033).

Conclusion
Women with CKD face many challenges in daily life but the major disparities are in the social and economic fields. Not only laboratory parameters but also gender disparities in the social field must be improved to achieve equal care for all people with CKD.
#6120 MIRNA PROFILING OF URINARY EXTRACELLULAR VESICLES (EVS) IN TBMN AND CFHR5 NEPHROPATHY FOR THE IDENTIFICATION OF NOVEL DISEASE BIOMARKERS
Authors: Louka Stavroula , Kakouri Andrea , Papagregoriou Gregory , Deltas Constantinos 
Published: June 2023

Abstract

Background and Aims
Thin basement membrane nephropathy (TBMN) and complement factor-H related protein 5 (CFHR5) nephropathy are two of the most common renal monogenic diseases with high phenotypic heterogeneity that is only partly accounted for by locus and allelic factors. Intra-familial variability in the age of ESKD onset for some patients particularly exemplifies such highly variable phenotypes, suggesting a potential modifying role of additional factors such as non-coding regulatory RNAs. Given that miRNAs are key regulators of gene expression, miRNAs from urine-derived extracellular vesicles (EVs) were investigated for their potential use as biomarkers in TBMN and CFHR5 diagnosis and prognosis.

Method
MiRNA profiling of human urinary EVs was carried out by small RNA-sequencing in an initial discovery cohort of 54 patients with TBMN and 44 patients with CFHR5 nephropathy, each classified further into three subgroups based on disease severity (Grey-zone: eGFR &gt;60 ml/min/1.73m2 and age &lt;50 y/o; Mild: eGFR &gt;60 ml/min/1.73m2 and age &lt;50 y/o; Severe: eGFR &lt;60 ml/min/1.73m2 independently of age). Differential expression of miRNAs from urine-derived EVs was compared with 30 age and sex matched healthy controls, whilst bioinformatic analysis was performed to delineate their associated mechanisms.

Results
Kidney-enriched candidate miRNA families were identified in urine-derived EVs for both TBMN and CFHR5 patients and further verified by RT-qPCR in the respective validation cohorts. Distinct miRNAs with significantly differentiated expression levels, compared to that of healthy control cohort, showed significant correlations with some of the evaluated clinical characteristics for both TBMN and CFHR5 patients suggesting a possible diagnostic and prognostic value on long follow-up. Finally, inverse correlations of miRNA expression with their predicted targeted genes identified dysregulated pathways and transcriptional networks for further investigation.

Conclusion
Collectively, distinct profiles of miRNAs from urine-derived EVs were identified in TBMN and CFHR5 nephropathy suggesting that a subset of differentially expressed miRNAs could serve as novel non-invasive biomarkers of disease progression and/or targets for the development of novel therapeutic approaches.