The Missense Variant in the Signal Peptide of Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway's Activation.

Anderson-Fabry disease (AFD) is an X-linked multisystemic disorder with a heterogeneous phenotype, resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A) and leading to globotriaosylceramide systemic accumulation. Lysosomal storage is not the unique player in organ failure and different mechanisms could drive tissue damage, including endoplasmic reticulum (ER) stress and its related signaling pathway's activation. We identified a new missense variant in the signal peptide of gene, c.

Artificial intelligence in chronic kidney diseases: methodology and potential applications.

Chronic kidney disease (CKD) represents a significant global health challenge, characterized by kidney damage and decreased function. Its prevalence has steadily increased, necessitating a comprehensive understanding of its epidemiology, risk factors, and management strategies. While traditional prognostic markers such as estimated glomerular filtration rate (eGFR) and albuminuria provide valuable insights, they may not fully capture the complexity of CKD progression and associated cardiovascular (CV) risks.

[Semaglutide in Chronic Kidney Disease: Great Enthusiasm. But How Does It Work?].

Chronic Kidney Disease (CKD) is a clinical condition characterized by the progressive loss of kidney function. 10% of the world's population is affected by this condition, which represents the fifth leading cause of death globally. Furthermore, CKD is associated with increased risk of fatal and non-fatal cardiovascular events, and progression to end-stage renal disease.

Early subclinical rejection treated with low dose i.v. steroids is not associated to graft survival impairment: 13-years' experience at a single center.

Subclinical rejection (SCR) has been variably associated with reduced graft survival, development and progression of interstitial fibrosis/tubular atrophy and chronic allograft nephropathy, but data are controversial concerning SCR treatment in terms of graft survival improvement. In this single-center retrospective study, we enrolled 174 adult kidney transplant recipients with a protocol biopsy performed at 30 days after transplantation to evaluate the incidence rate and risk factors for early SCR and its impact on 10-year graft survival. Five patients showed primary non function and were excluded.

Anthropometric measures can better predict high blood pressure in adolescents.

Background: Among children, obesity and overweight may be predictors of cardiovascular (CV) risk. The purpose of this study was to examine whether body mass index (BMI), waist circumference (WC) and waist to height ratio (WHtR) were related to blood pressure (BP) among healthy southern Italian students enrolled in 3 different secondary schools.

Methods: Weight, height, BP and WC were measured; BMI and WHtR were calculated for 872 Italian students.

[Acute renal failure in the course of Hashimoto's thyroiditis].

Hashimoto's thyroiditis is the commonest form of autoimmune thyroiditis in the world. It occurs most frequently in women (female/male ratio, 6:1) in the age group between 30 and 60 years. Here we report the case of a 38-year-old Caucasian man who presented with a few days' history of upper limb paresthesias, widespread joint and muscle pain, and headaches.

Impact of body mass index on graft loss in normal and overweight patients: retrospective analysis of 206 renal transplants.

Background: Excess body mass is increasingly prevalent in transplant recipients. Currently, most investigators consider body mass index (BMI) a categorical variable, which assumes that all risk factors and transplant outcomes will be similar in all patients within the same category. We investigated the effect of categorical and continuous BMI increments on renal transplant outcome in normal weight (NW: BMI 18.

Prospective study of BKV nephropathy in 117 renal transplant recipients.

Nephropathy caused by poliomavirus (BKVAN) in transplant recipients is responsible for the loss of the transplanted organ. In this study we suggest a non-invasive diagnostic protocol for the early identification of BKVAN during follow-up treatments. In 117 kidney transplant recipients follow-up was performed every three months during a two year period after transplantation and a positive screening result was confirmed and assessed by quantitative assays (BKV DNA load in plasma and urine).

Antiendomysial antibodies in Berger's disease.

The finding of increased levels of immunoglobulin A (IgA) against food antigens in patients with IgA nephropathy prompted the hypothesis of an association between IgA nephropathy and celiac disease (CD). Attention was initially directed to antigliadin antibodies, then to IgA antiendomysial antibodies (IgA-EMA). IgG1-EMA have been found in patients with CD with IgA-EMA-negative results.