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J Nephrol 2022 Jun 27. Epub 2022 Jun 27.

Independent Researcher, via Ampere 126, 20131, Milan, Italy.

Sarcoidosis is a systemic inflammatory disease of unknown etiology. The pathogenesis rests on an aberrant T cell response to unidentified antigens in individuals predisposed by genetic and environmental factors. Increased expression of polarized macrophages and disequilibrium between effector and regulator T cells contribute to the formation of noncaseating granulomas, that are frequently found in affected organs. Read More

J Bone Miner Res 2022 Aug 8;37(8):1580-1591. Epub 2022 Jul 8.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers. Read More

Cureus 2022 Mar 29;14(3):e23616. Epub 2022 Mar 29.

Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR.

Nephrolithiasis (NL) and urolithiasis (UL) are usual reasons for hospitalization and presentation in pediatric outpatient departments and their incidence continues to rise worldwide. In Morocco, a previous epidemiological study done in the Fez region between January 2003 and November 2013 reported a prevalence of 0.83% of childhood UL. Read More

Int J Environ Res Public Health 2022 04 3;19(7). Epub 2022 Apr 3.

Centre for Health Services and Clinical Research, De Havilland Campus, University of Hertfordshire, Hatfield AL10 9EU, UK.

Bodybuilders routinely engage in many dietary and other practices purported to be harmful to kidney health. The development of acute kidney injury, focal segmental glomerular sclerosis (FSGS) and nephrocalcinosis may be particular risks. There is little evidence that high-protein diets and moderate creatine supplementation pose risks to individuals with normal kidney function though long-term high protein intake in those with underlying impairment of kidney function is inadvisable. Read More

World J Urol 2022 May 12;40(5):1211-1216. Epub 2022 Feb 12.

Department of Pediatric Urology and Children's Urolithiasis Treatment Center of National Health Commission of China, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

Purpose: To compare the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses.

Methods: The clinical characteristics corresponding to pediatric urolithiasis patients that had undergone exome sequencing at our hospital between January 2016 and May 2021 were collected. Genetic analysis results were used to separate patients into positive and negative molecular diagnosis groups. Read More