Publications by authors named "Silvia Gracia-Garcia"

More than 20 years have passed since the identification of and as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the presence of modulatory factors influencing cystinuria severity. In 2016, a second renal cystine transporter, AGT1, encoded by the gene, was discovered.

View Article and Find Full Text PDF

Chronic kidney disease (CKD) is a major public health problem worldwide that affects more than 10% of the Spanish population. CKD is associated with high comorbidity rates, poor prognosis and major consumption of health system resources. Since the publication of the last consensus document on CKD seven years ago, little evidence has emerged and few clinical trials on new diagnostic and treatment strategies in CKD have been conducted, apart from new trials in diabetic kidney disease.

View Article and Find Full Text PDF

Objective: This paper presents the differential diagnosis of a calcified mass found in the pelvic cavity of an adult male dating to the 10th century AD.

Materials: Skeletal remains of an adult male exhumed from the cemetery associated with the early medieval church of Riner (Solsonès, Catalonia).

Methods: The structure and composition of the mass were examined by x-ray imaging, microscopic stereoscopy and Fourier transform infrared spectrometry analysis.

View Article and Find Full Text PDF

Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019.

View Article and Find Full Text PDF

Chronic kidney disease (CKD) and its complications have become a major healthcare problem, both due to the resources that are required in the final stages of the disease and to secondary complications. As such, its early diagnosis is considered to be very important nowadays. The recently published 2013 KDIGO guidelines base the definition and classification of CKD on glomerular filtration values and albuminuria as staging criteria and prognostic markers of the disease.

View Article and Find Full Text PDF

Introduction: In 2006 the Spanish Society of Clinical Biochemistry and Molecular Pathology (SEQC) and the Spanish Society of Nephrology (S.E.N.

View Article and Find Full Text PDF

Objective: To perform a chemical analysis of all the available waters in Spain with the idea of offering consume recommendations to lithiasic patients.

Material And Methods: Information research of the chemical composition of Spanish tap and bottled water in publications, supermarkets and Internet. A descriptive study, and a correlation study between water components by means of Pearson test were performed.

View Article and Find Full Text PDF