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Renal hypomagnesemia syndromes involving CNNM2 protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel CNNM2 p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change in CNNM2 structure in the cystathionin beta synthase (CBS) domain and the carboxy-terminal protein segment. A novel finding was that aldosterone inhibition with spironolactone helped to alleviate hypomagnesemia and symptoms in the proband.

Background: Postoperative Acute Kidney Injury (AKI) is a common and serious complication associated with significant morbidity and mortality. While several pre- and intra-operative risk factors for AKI have been recognized in cardiac surgery patients, relatively few data are available regarding the incidence and risk factors for perioperative AKI in other surgical operations. The aim of the present study was to determine the risk factors for perioperative AKI in patients undergoing major abdominal surgery. Methods: This was a prospective, observational study of patients undergoing major abdominal surgery in a tertiary care center. Postoperative AKI was diagnosed according to the Acute Kidney Injury Network criteria within 48 h after surgery. Patients with chronic kidney disease stage IV or V were excluded. Logistic regression analysis was used to evaluate the association between perioperative factors and the risk of developing postoperative AKI. Results: Eleven out of 61 patients developed postoperative AKI. Four intra-operative variables were identified as predictors of AKI: intra-operative blood loss (p = 0.002), transfusion of fresh frozen plasma (p = 0.004) and red blood cells (p = 0.038), as well as high chloride load (p = 0.033, cut-off value &gt, 500 mEq). Multivariate analysis demonstrated an independent association between AKI development and preoperative albuminuria, defined as a urinary Albumin to Creatinine ratio &ge, 30 mg&middot, g&minus, 1 (OR = 6.88, 95% CI: 1.43&ndash, 33.04, p = 0.016) as well as perioperative chloride load &gt, 500 mEq (OR = 6.87, 95% CI: 1.46&ndash, 32.4, p = 0.015). Conclusion: Preoperative albuminuria, as well as a high intraoperative chloride load, were identified as predictors of postoperative AKI in patients undergoing major abdominal surgery.

Listeria monocytogenes has rarely been reported to cause peritonitis in peritoneal dialysis (PD) patients. Listeriosis is usually a severe disease with a mortality rate of 20 to 40% in humans despite early antibiotic treatment. In this report we present the first case in Greece of peritonitis caused by L. monocytogenes, in a chronic PD patient with severe cardiac failure. The patient received prolonged antibiotic therapy with vancomycin and netilmicin which resulted in peritonitis resolution. Unfortunately however, the listeria infection caused decompensation of the patient’s cardiac failure and led to his death, despite appropriate antibiotic treatment. When peritoneal fluid cultures yield gram positive rods in an immune-compromised patient or on a patient with severe underlying diseases who regularly consumes dairy products, the clinical suspicion of this rare infection must be immediately evaluated. Listeriosis can be fatal despite effective antibiotic therapy, since it affects patients with severe underlying pathologies.