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Background: Even though complement 1q nephropathy (C1qN) was first introduced in 1985, this entity is still unknown and recognized by clinicians due to its rare prevalence (0.2 - 2.5 %) and insufficient emphasis. Description of the case: A 50-year-old woman was incidentally found to have non-nephrotic proteinuria with a normal glomerular filtration rate. Renal biopsy revealed C1qN with severe fibrosis. The presence of consanguinity and kidney diseases in family members of the patient led to genetic research, and homogenous mutation of c.991G>T (p.G331C) in the WD-repeat domain 19 (WDR19) gene was found. The same homozygous and heterozygous mutations in the WDR gene were found in the relatives of our patient with kidney diseases. One year of follow-up with methylprednisolone and mycophenolate mofetil treatment resulted in partial remission of the kidney disease. Conclusion: Renal biopsy for patients with non-nephrotic proteinuria without delay is suggested as it might be a surrogate marker of severe injury. Genetic mutations in the WDR19 gene should be searched for C1qN pathogenesis. This is the first adult case report on C1qN from Turkey. [ABSTRACT FROM AUTHOR]

Objective: The ATM gene is one of the most common breast cancer (BC) susceptibility genes after BRCA1/2 and has been shown to be a moderate BC susceptibility gene. The association between ATM germline mutation and clinical features of BC is now unknown. In this article, clinicopathological features of BC patients with ATM germline heterozygous mutation were investigated., Materials and Methods: Patients admitted to the Medical Genetics department of a tertiary hospital between January 2020 and December 2022 were examined. Only invasive BC patients with pathogenic mutation, likely pathogenic mutation, or variants of uncertain significance (VUS) were included in the study., Results: In all, 121 patients were included in the study. The median age at the first cancer diagnosis of the patients was 44 years. Of the total number of patients, 75.2% (91) had the histological subtype of infiltrating ductal carcinoma, and 43% (52) had Luminal B molecular subtype features. At a median follow-up of 16 months, 5.8% (7) of patients developed cancer in the contralateral breast. In addition, 7.4% (9) of the patients developed a second primary cancer during follow-up. When the patients were compared according to ATM variant classification, the localization, histologic types, and molecular subtypes of the BC were not different between all groups (respectively; p =0.68, p =0.65, p= 0.32)., Conclusions: To the best of our knowledge, this is the first publication that evaluates the clinical and pathological characteristics of BC patients with germline heterozygous ATM mutations in the Turkish population. When patients were compared according to variant classifications of ATM mutation, patients' histological and molecular subtypes were similar., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Ünsal et al.)

Background: Cutaneous diseases are observed with increasing duration and severity of renal disease in patients with chronic kidney disease (CKD). This study aimed to elucidate dermatological manifestations at different stages of CKD and determine their relationship with interleukin 31 (IL-31), a T-cell cytokine that induces severe pruritus, and uridine diphosphate (UDP)-glucose ceramide glucosyltransferase (UGCG), an enzyme that metabolizes ceramide, which plays an important role in moisturizing epidermis., Methods: In this retrospective cohort study 145 patients with a mean age of 46 ± 17 years were categorized into hemodialysis (group 1), peritoneal dialysis (group 2),  kidney transplant (group 3), CKD (group 4), and healthy control (group 5) groups. Serum IL-31 and  UGCG levels were measured using enzyme-linked immunosorbent assay, and clinical dermatologists evaluated dermatological manifestations., Results: In the overall cohort, pruritus was significantly and inversely correlated with glomerular filtration rate and serum hemoglobin and albumin levels (p <0.005). Additionally, pruritus was significantly more frequent in group 2 than in group 5; and significantly less frequent in group 3 than in groups 1, 2, and 4 (p =0.01). In group 4, the patients with longitudinal nail ridges had significantly higher serum IL-31 levels than those without longitudinal nail ridges in their nails (p =0.02). Furthermore, in group 2, the patients with pruritus had significantly lower UGCG levels than those without pruritus (p =0.045)., Conclusion: IL-31 might play a role in the development of longitudinal nail ridges, whereas UGCG might provide protection from pruritus and xerosis in patients with CKD.  HIPPOKRATIA 2019, 23(2): 75-80., Competing Interests: All authors declare that there are no conflicts of interest related to the study., (Copyright 2019, Hippokratio General Hospital of Thessaloniki.)

To determine how and how often blood pressure (BP) measurement is performed in health institutions. The researchers observed whether or not 84 physicians performed BP measurement. Immediately after BP measurement by the physician, this was repeated by the researchers in a manner compatible with HT guidelines. The physicians' and researchers' BP measurement results were compared. Physicians measured BP in only 37% (427) of 1130 consecutive patient examinations. None of the physicians "BP measurements were fully compatible with the guidelines" BP measurement recommendations. Physicians who performed measurements determined the same SBP and DBP as the researchers in 34.3% of patients. Hypertension was determined in 18.9% of patients in clinics in which BP measurement was not performed by physicians. Not all physicians in our study measured BP, and the great majority of those who did failed to measure it reliably. We think that it is therefore vitally important for physicians across the world to receive regular, repeated, and effective training in the importance of BP measurement and how to perform it correctly.