Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings.

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Background: Genetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is . In this study, we analyzed the spectrum of variants and their associated phenotype in Czech adult FSGS patients.

In essential hypertension, a change in the renal resistive index is associated with a change in the ratio of 24-hour diastolic to systolic blood pressure.

An increase in the renal resistive index (RRI) in patients with essential hypertension (EH) predicts deterioration in renal function. In patients with EH, changes in hemodynamic parameters significantly affect the RRI. This study aimed to define changes in Ambulatory Blood Pressure Monitoring (ABPM) parameters that are significantly associated with a change in RRI in patients with EH.

Novel Algorithm for the Differential Diagnosis of Hyponatraemia in Anuric Patients Undergoing Maintenance Haemodialysis.

Introduction: Hyponatraemia is associated with increased mortality in patients undergoing maintenance haemodialysis. In anuric patients, hyponatraemia development depends on the water-sodium ratio in retained fluid within the interdialysis interval (IDI).

Objective: This study aimed to calculate the retained sodium-retained water ratio in patients on maintenance haemodialysis and make a differential diagnosis of hyponatraemia according to these data.

Spironolactone-furosemide combination therapy and acid-base disorders in liver cirrhosis patients .

Objective: Respiratory alkalosis (RA) and dilutional hyperchloremic acidosis (DHA) are the most common acid-base balance (ABB) disorders in patients with liver cirrhosis. The aims of this study were to clarify whether RA develops in relation to DHA via respiratory compensation of metabolic acidosis and whether spironolactone in combination with low-dose furosemide - diuretics known to ameliorate DHA - positively affects RA in liver cirrhosis patients.

Materials And Methods: 59 patients with advanced cirrhosis were divided into two groups.