Publications by authors named "Sgarlato V"

Article Synopsis
  • * There are three types of FHH, with type 1 being the most common, linked to a mutation in the CASR gene, while types 2 and 3 are associated with mutations in the GNA11 and AP2S1 genes, respectively.
  • * Identifying FHH is crucial for distinguishing it from primary hyperparathyroidism, which occurs more frequently; misdiagnosis could lead to unnecessary surgeries, especially since genetic testing can clarify the condition.
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The development of acute kidney injury (AKI) in polytrauma patients is a common and serious complication, with an incidence ranging from 6% to 50%. Polytrauma is a complex pathological condition that involves the collaboration of various specialists. On one hand, hemodynamic stabilization through fluid therapy and aminic support, with specific attack protocols, managed by anesthetists.

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Cystic fibrosis is an autosomal recessive disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most recent therapeutic approach to cystic fibrosis aims to correct structural and functional abnormalities of CFTR protein. CFTR modulators including ivacaftor-tezacaftor-elexacaftor are used in patients with F508del mutation, with clinical improvement.

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Mutations in the 24-hydroxylase gene CYP24A1 have been recognized as causes of childhood idiopathic hypercalcemia (IIH), a rare disease (incidence <1:1,000,000 live births) characterized by increased vitamin D sensitivity, with symptomatic severe hypercalcemia. IIH was first described in Great Britain two years after the start of a program of vitamin D supplementation in milk for the prevention of rickets, manifesting in about 200 children with severe hypercalcemia, dehydration, growth failure, weight loss, muscle hypotonia, and nephrocalcinosis. The association between the epidemic occurrence of IIH and vitamin D administration was quickly attributed to intrinsic hypersensitivity to vitamin D, and the pathogenic mechanism was recognized in the inactivation of Cytochrome P450 family 24 subfamily A member 1 (CYP24A1), which was identified as the molecular basis of the pathology.

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Acute Kidney Injury (AKI) is associated with a great increase in morbidity and mortality in severely burned patients and occurs as a complication in more than 25% of these cases. The onset of ARF may be early or late. Early AKI depends mainly on reduced cardiac output resulting from fluid loss, rhabdomyolysis, or hemolysis.

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Introduction: Metformin is the first choice drug in type II diabetes. This drug has a renal excretion and its use requires caution in a setting of glomerular filtration rate reduction; an accumulation can be associated with a lactic acidosis, complication burden with a high rate mortality.

Methods: In a user base of 390.

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The maintenance of an adequate of quality of life (QoL) represents a critical issue in the management of patients in haemodialysis and is also used to assess the effectiveness of health care programmes. The Consumer Direction Theory of Empowerment (CDTE) implies that greater patient direction in policy formulation and services delivery, together with an increased community integration, endorses a process which leads to a better QOL. The aim of the study was to test a contextualized version of CDTE in an ambulatory for patients in haemodialysis.

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Lymphoproliferative disorders often involve the kidney either by direct cell infiltration (lymphoma) or by deposition of paraproteins (monoclonal gammopathy, multiple myeloma, LCDD, amyloidosis). Nowadays the latter phenomenon seems to be the most common as a result of the growing number of elderly people affected by monoclonal gammopathies. The nephrotoxic potential of monoclonal immunoglobulins and amyloidogenic proteins make monoclonal gammopathies clinical entities of considerable interest in nephrology.

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