Publications by authors named "Caldato M"

Article Synopsis
  • - The Brazilian Rare Diseases Network (RARAS) was established in 2020 to conduct a nationwide epidemiological survey on rare diseases (RDs) in Brazil, addressing the lack of comprehensive national data since the Comprehensive Care Policy for RDs began in 2014.
  • - A total of 12,530 patients were surveyed, with a median age of 15 years; significant findings included that 63.2% had confirmed diagnoses, primarily of phenylketonuria, cystic fibrosis, and acromegaly, and average diagnostic delays lasting 5.4 years.
  • - The majority of diagnoses and treatments were funded by the Public Health System, with notable rates of hospitalization (44.5%) and a mortality rate
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Background And Aims: Digestive endoscopy is a resource-intensive activity with a conspicuous carbon footprint and an estimated rate of inappropriateness. However, the carbon costs of inappropriate endoscopic procedures still remain obscure. Here we evaluated the environmental impact of inappropriate endoscopic examinations.

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Background: Intestinal ischemia has been described in case reports of patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) disease (coronavirus disease 19, COVID-19).

Aim: To define the clinical and histological, characteristics, as well as the outcome of ischemic gastrointestinal manifestations of SARS-CoV-2 infection.

Methods: A structured retrospective collection was promoted among three tertiary referral centres during the first wave of the pandemic in northern Italy.

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Article Synopsis
  • The study aimed to explore the oral and maxillofacial effects in patients with chronic kidney disease-mineral and bone disorders (CKD-MBD) over a 13-year period in Brazil.
  • Twenty-one cases were identified, with patients showing conditions like brown tumors of hyperparathyroidism and osteitis fibrosa/renal osteodystrophy, with 42.8% of the issues found in the mandible.
  • Findings revealed significant biochemical markers and various treatments, with some patients improving while others faced serious health risks, highlighting the critical nature of these oral manifestations.
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Background: Guidelines recommend that implantable loop recorders (ILRs) are used in the evaluation of people with recurrent unexplained syncope in the absence of high-risk criteria, and in high-risk patients after a negative evaluation. The aim of this systematic review was to analyze the diagnostic yield of ILRs in these patients.

Methods: We performed a systematic search in order to retrieve studies enrolling adults undergoing ILR implantation for undetermined syncope.

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Congenital Hypothyroidism affects between 1:3000 and 1:4000 newborn infants in iodine-sufficient regions. Some studies have shown that mutations and polymorphisms in the TSH receptor gene are responsible for this disease. In the present study, mutations of exon 10 of the TSH receptor gene were investigated in Congenital Hypothyroidism patients.

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Amyloidosis, a potentially fatal disease, is characterized by an abnormal deposition of autologous proteins. Heart, liver, kidneys, lung, thyroid, skin and the gastrointestinal tract can be involved; in this last case mucosal alterations or disturbances of the motility leading to pseudo-obstruction, bleeding, diarrhea and malabsorption can be present. However, the data concerning the possible gastrointestinal presentations of amyloidosis are scanty and heterogeneous.

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To ascertain whether single nucleotide polymorphisms (SNPs) regulating the expression of interferon-gamma (IFN-gamma), IFN-gamma receptor-1 (IFNGR-1), interleukin-6 (IL-6), IL-10, IL-18, and tumor necrosis factor-alpha (TNF-alpha) may be associated with early fibrosis progression of recurrent hepatitis C, 50 liver transplantation recipients (32 men, 18 women, median age 56 years) with a median histologic follow-up time of 54 months were studied; 98 healthy blood donors served as controls. Cytokine SNPs were determined by means of previously described PCR-based methods. On the basis of the SNP studies, a low, intermediate, or high producer cytokine phenotype was attributed to each patient.

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Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant multicancer syndrome caused by the germline mutation of a tumor suppressor gene. Affected individuals develop benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and reproductive system. Although VHL disease is mainly diagnosed after the detection of central nervous system tumors, they may not always be the first presentation.

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Background: The histological outcome of chronic hepatitis C is better among carriers of the apolipoprotein E (ApoE) epsilon4 allele, for reasons unknown. The orthotopic liver transplantation (OLT) setting allows to separate the role played by liver-derived ApoE (graft) from ApoE of different origin (recipient).

Patients And Methods: Forty-six OLT recipients with recurrent hepatitis C were studied.

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Background: Subjects who carry the D allele of the angiotensin-converting enzyme (ACE) gene have higher plasma and tissue angiotensin II levels, possibly concurrent with the development of obesity. In transplant recipients, treatment with calcineurin antagonists would magnify these effects. The present study verifies whether the allelic variants of ACE are a factor involved in excess weight gain after liver transplantation.

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Background: In the treatment of hepatitis C virus (HCV) infection, regimens including pegylated interferon-alpha are superior to those including standard interferon; the present retrospective study was performed to verify whether the same is applicable to biopsy-proven recurrent hepatitis C (genotype 1b) after liver transplantation (OLT).

Methods: Twenty-four patients (16 male) were studied. Twelve had received interferon-alpha(2b) (IFN), 9 MU weekly and 12 received pegylated interferon-alpha(2b) (PEG-IFN), 0.

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Replacement schedules with hydrocortisone (HC) to treat 21OHD are generally unsatisfactory and partially successful regarding growth. Noncompliance is common since its short half-life requires TID administration. Even multiple daily HC doses do not reproduce cortisol chronobiology and may disturb hypothalamic-mediated rhythms.

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Carriage of the epsilon4 allelic variant of the apolipoprotein E (ApoE) gene might affect the outcome of hepatitis C virus (HCV) infection. The liver transplantation setting offers the opportunity to verify the role of the donor's vs recipient's ApoE polymorphism. Twenty-four patients (16 men) with recurrent hepatitis C, all infected by HCV-1b and treated with interferon and ribavirin, were genotyped for ApoE variants.

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Adefovir-dipivoxil has been shown to be effective against lamivudine-resistant mutants in immunocompetent patients and in a small number of liver transplant recipients with recurrent hepatitis B virus (HBV) infection. The therapeutic role of adefovir-dipivoxil in acute de novo HBV infection after transplantation is uncertain. We describe a case of acute de novo HBV infection that occurred after liver transplantation and that was treated with lamivudine followed (when viral escape mutants emerged) by adefovir-dipivoxil rescue.

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Prothrombin variant 20210A is maintained to be a mild risk factor for venous thromboembolism (VTE). The association of this defect with other inherited thrombophilic conditions may result in an increased risk of developing VTE. In this article, a family is described in which prothrombin variant was associated with either homozygous or heterozygous factor V Leiden (FV Leiden) mutation.

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