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Introduction: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis., Case Description: We present the first familial case of Fabry Disease in North Macedonia identified based on clinical manifestations and confirmed through enzyme, biomarker, and genetic tests. The index case in the family was a 45-year-old male undergoing hemodialysis therapy. He has had chronic burning uncontrolled limb pain since childhood, intermittent abdominal cramps, anhidrosis, and hypertension. The constellation of clinical presentations accompanied by similar symptoms in close family members prompted the enzyme, biomarker, and genetic analyses for Fabry disease. Genetic testing identified a known pathogenic GLA missense variant c.443G>A or p.(Ser148Asn) in the hemizygous state. Subsequent family studies allowed identification of another hemizygous male and five heterozygous female carriers affected by this X-linked disorder., Conclusion: We report identification of the first familial case of Fabry disease in North Macedonia and describe the phenotype associated with the Ser148Asn GLA variant. Greater awareness of this rare disease linked to continuous medical education is crucial for timely diagnosis and treatment., 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 © 2024 Gjorgjievski, Karanfilovski, Arsov, Vidimliski, Andreevska, Selim, Dejanov, Jordanova, Marinova, Paskalev and Nikolov.)

Introduction: The polymorphism of the angiotensin-converting enzyme (ACE) gene and interleukin-1 beta (IL-1b) gene could be associated with resistance in the treatment of anemia in dialysis patients with recombinant human erythropoietin (rHuEPO). The aim of the study was to evaluate the association between the polymorphism of the ACE and IL-1b genes and the response to rHuEPO therapy in dialysis patients with anemia., Material and Methods: The study investigated 69 patients on dialysis with anemia treated with recombinant human erythropoietin for 12 months. Genotyping of ACE and IL-1b polymorphism was done in all study patients at the initiation of the study. The patient's demographic characteristics, dialysis vintage, and laboratory parameters were also evaluated as factors associated with rHuEPO resistance. The erythropoietin resistance index (ERI) was calculated as the weekly rHuEPO dose per kg of body weight, divided by the hemoglobin (Hb) concentration in g/dl., Results: The Hb ≥ 110 g/l was registered in 37 (53.6%) patients. Patients with Hb ≥ 110 g/l were characterized by significantly higher serum levels of albumin, cholesterol, and iron than those with Hb < 110 g/l. The serum level of the CRP, the weekly dose of rHuEPO, and ERI were significantly higher in patients with Hb < 110 g/l compared to patients with Hb ≥ 110 g/l. The ERI value of ≥ 10 IUkg/weekly/g/dl was present in 27 (39.1%) patients. The serum levels of ferritin and CRP, and weekly dose of rHuEPO were significantly higher in patients with ERI value ≥ 10 IU kg/weekly/g/dl compared with the patients with ERI value < 10 IUkg/weekly/g/dl. There was no significant association between the ERI and polymorphism of the ACE and IL-1b genes in study patients., Conclusion: The polymorphism of the ACE and IL-1b genes was not significantly associated with the response to erythropoietin therapy in dialysis patients with anemia. Iron deficiency, malnutrition, and inflammation were factors associated with anemia and resistance to erythropoietin therapy in dialysis patients., Competing Interests: CONFLICT OF INTEREST The authors declare that they have no conflict of interest related to the publication of this manuscript., (© 2023 P Dzekova-Vidimliski et al., published by Sciendo.)

Background: Advanced Cardiovascular Life Support (ACLS) guidelines recommend intravenous (IV) and intraosseous (IO) epinephrine as a basic cornerstone in the resuscitation process. Data about the efficacy and safety of intracoronary (IC) epinephrine during cardiac arrest in the catheterization laboratory are lacking., Objective: To examine the efficacy and safety of IC vs. IV epinephrine for resuscitation during cardiac arrest in the catheterization laboratory., Methods and Results: This is a prospective observational study that included all patients who experienced cardiac arrest in the cath lab at two tertiary centres in Egypt from January 2015 to July 2022. Patients were divided into two groups according to the route of epinephrine given; IC vs. IV. The primary outcome was survival to hospital discharge. Secondary outcomes included rate of return of spontaneous circulation (ROSC), time-to-ROSC, and favourable neurological outcome at discharge defined as modified Rankin Scale (MRS) <3. A total of 162 patients met our inclusion criteria, mean age (60.69 ± 9.61), 34.6% women. Of them, 52 patients received IC epinephrine, and 110 patients received IV epinephrine as part of the resuscitation. Survival to hospital discharge was significantly higher in the IC epinephrine group (84.62% vs. 53.64%, P < 0.001) compared with the IV epinephrine group. The rate of ROSC was higher in the IC epinephrine group (94.23% vs. 70%, P < 0.001) and achieved in a shorter time (2.6 ± 1.97 min vs. 6.8 ± 2.11 min, P < 0.0001) compared with the IV group. Similarly, favourable neurological outcomes were more common in the IC epinephrine group (76.92% vs. 47.27%, P < 0.001) compared with the IV epinephrine group., Conclusion: In this observational study, IC epinephrine during cardiac arrest in the cath lab appeared to be safe and may be associated with improved outcomes compared with the IV route. Larger randomized studies are encouraged to confirm these results., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)

The glomerulopathies associated with the deposition of extracellular fibrils in the glomeruli are subdivided into Congo red positive (amyloidosis) and Congo red negative (non-amyloidotic glomerulopathies) based on Congo red staining. The non-amyloidotic glomerulopathies are divided into immunoglobulin-derived and non-immunoglobulin-derived glomerulopathies. The immunoglobulin-derived glomerulopathies: fibrillary glomerulopathy (FGn) and immunotactoid glomerulopathy (ITG) are rare glomerulopathies. The diagnosis of fibrillary-immunotactoid glomerulopathy depends on electron microscopy, which shows the presence of microfibrils in the glomeruli. The microfibrils in FGn are randomly arranged with diameters less than 30 nm. The microfibrils in ITG are larger than 30 nm with a visible lumen (microtubules), focally arranged in parallel bundles. Patients with fibrillary-immunotactoid glomerulopathy present with proteinuria (usually in the nephrotic range), microscopic hematuria, arterial hypertension, and chronic kidney disease that progresses to kidney failure over months to years. Currently, there are no guidelines for the treatment of fibrillary-immunotactoid glomerulopathy, although immunotactoid glomerulopathy could be associated with underlying hematologic disorders with the need for clone-directed therapy., (© 2023 Pavlina Dzekova-Vidimliski et al., published by Sciendo.)

Background: The determination of blood flow rate (BFR) is a useful tool for assessing the function of arteriovenous fistula (AVF)., Methods: Eighty patients with a newly created radio cephalic AVF were analyzed. Hemodynamics and morphological characteristics of the blood vessels were assessed by Doppler ultrasound., Results: The mean age of patients was 59.9 ± 13.5 years. A successful rate of AVF maturation was 62.5% at 8 weeks. Six adjusted models of multivariate analysis showed that BFR at Day 1 was a predictor for AVF maturation both at 4 weeks (p < 0.001) and 8 weeks (p < 0.001). Receiver operating characteristic analysis showed an optimal cut-off point for BFR at Day 1 of 395 ml/min for successful maturation at 4 weeks (sensitivity 0.714, specificity 0.889) and 344 ml/min for successful maturation at 8 weeks (sensitivity 0.860, specificity 0.867)., Conclusion: BFR at Day 1 is a powerful predictor for successful AVF maturation at 4 and 8 weeks., (© 2022 International Society for Apheresis and Japanese Society for Apheresis.)

Peritoneal dialysis-related peritonitis remains the major complication and primary challenge to the long-term success of peritoneal dialysis (PD). The study aimed to analyze the peritonitis rate, the cause, the outcomes, and the association of peritonitis with the survival of patients on peritoneal dialysis. Patient data were collected retrospectively from medical charts. A total of 96 patients received peritoneal dialysis in the PD center from 1 January 1999 to 31 December 2018. Episodes of peritonitis (n=159) were registered in 54 (56.3%) patients. The study population was divided into two groups, a group of patients (n=54) who experienced peritonitis and a group of patients free of peritonitis (n=42). The peritonitis rate was 0.47 episodes per patient year. The majority of causative microorganisms were gram-positive bacteria (53.5%). Outcomes of the episodes of peritonitis were resolved infection in 84.9% of episodes, catheter removal in 11.3% of episodes, and death in 3.8% of the episodes of peritonitis. A Kaplan-Meier analysis and log-rank test revealed that the group with peritonitis tended to survive significantly longer than the peritonitis-free group. A 67% reduction rate in the risk of patient mortality was observed for the peritonitis group compared with the peritonitis-free group (hazard ratio: 0.33, 95% CI 0.19-0.57, P=0.000). The prevention and management of PD-related infections, resulted in their worldwide reduction, supporting the use of PD as a first-line dialysis modality., (© 2021 Ioannis Chrysikos, published by Sciendo.)