Uso específico de ISCI durante a nutrição enteral noturna em criança com diabetes tipo 1, tireoidite de Hashimoto e síndrome de Down

The management of insulin therapy in diabetic patients who have comorbidities that involve nutritional aspects, is a major challenge for diabetes care teams. In diabetic patients with compromised nutritional status, artificial nutrition, both enteral or parenteral, may help in the treatment of chronic and acute diseases, leading to better and faster recover of the health status but, if not adequately associated with insulin therapy, it may negatively affect blood glucose levels and lead to poorer metabolic control. In particular, evidence-based recommendations for the treatment of diabetic patients during enteral nutrition therapy are not currently available and, therefore, medical practices are often based on case reports, rather than outcomes of research. We report our experience with a diabetic patient receiving nocturnal enteral feeding due to comorbidities and malnutrition, who was followed up at our centre and precociously treated with continuous subcutaneous insulin infusion after the onset of type 1 diabetes. There is great need for adequately powered randomized controlled trials to provide scientific evidence for the insulin treatment of diabetic patients undergoing enteral feeding

HLA-DQ typing in the diagnostic algorithm of celiac disease.

Objective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing. Material and methods: we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited. Results: 64% of patients with CD carried DQ2 heterodimer (α5β2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed β2 chain and 1.1% were positive for DQ2 α5 chain. The only presence of α5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between β2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 1:7 for HLA-DQ2 homozygous to 1:85 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories. Conclusions: our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patient's HLA-DQ genotype allows to establish clinically relevant genetic risk profiles

Type 1 diabetes, sport practiced, and ankle joint mobility in young patients: What is the relationship?

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Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation

Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle. The insulin lispro dilution allowed administration of the exact insulin doses, obtaining a good glycemic control and minimizing the burden of injections. At 2 months, corrected age insulin doses were progressively decreased until discontinuation

A mathematical model appraising the effect of metabolic control on joint mobility in young diabetic patients: a preliminary study

Objective. The impairment of glycemic control can induce limited joint mobility even in young type 1 diabetic (T1DM) patients. The aims of this study were to verify the presence of ankle joint mobility (AJM) deficits in young T1DM subjects and define a mathematical model of diabetes mellitus long-term effects on AJM. Methods. AJM was evaluated using an inclinometer in 37 patients and 53 healthy, sex- BMI- and age-matched controls. To set up the mathematical model, we assumed that reduced metabolic control affects AJM according to a lognormal function: requiring some time for development of a reduction of joint mobility, which then persists for a long period, before fading out over time (if glycemic control has been recovered). A non-linear optimization determined the model parameters to achieve the best fit for a series of patients. Results. Both plantar and dorsiflexion AJM was significantly lower in diabetic subjects than in controls (plantarflexion: 28.5°±7.5 vs 35.2°±6.5; dorsiflexion: 93.9°±16.0 vs 104.7±12.8; p<0.01). The defined model approximates the experimental data with good accuracy; after optimization, the lognormal curve obtained is in line with empirical estimates: lack of glycemic control needs to persist for at least a few months before producing a significant effect, that lasts up until one year. The fitting procedure indicated the optimal solution is p = (37; 30; 3:5; 6:7; 137); thus, the optimal _im(t) corresponds to the curve reported. Conclusion. AJM was significantly reduced in young T1DM patients. The mathematical model represents the experimental data accurately

Celiac Disease Negatively Influences Lipid Profiles in Youngest Children With Type 1 Diabetes: Effect of the Gluten-Free Diet

The association between low HDL cholesterol (HDL-C) concentrations and increased cardiovascular risk is well established. Low HDL-C levels were found in subjects with type 1 diabetes (T1D) who presented complications and in untreated subjects with celiac disease (CD). The association between TID and CD might therefore enhance this lipid abnormality and accelerate the atherosclerotic process

Broad Down, Devon: archaeological and other stories

publication-status: PublishedThis is a post-print, author-produced version of an article accepted for publication Journal of Material Culture, 2010, Vol. 15, Issue 3, pp. 345 - 367. Copyright © 2010 SAGE Publications. The definitive publisher-authenticated version is available online at http://mcu.sagepub.com/content/15/3/345.shortThis article explores the knowledge construction process of an archaeological site in East Devon, UK. Bouncing off an oral historical account of the site that seems to run against scientific truth claims, the author investigates the story of how knowledge of the site has developed over the last two centuries. Building on previous work that explores the history and practice of archaeology, the article opens up questions of what counts as evidence. Then, taking a cue from more recent work that suggests a more dynamic and open-ended engagement with the landscape, the article turns to examine how the meaning of a site can be made and remade. As part of this endeavour, questions of what as well as who can ‘speak’ are examined and some space is opened up for the agency of ‘minor figures’, both human and non-human

Precision tests of the Standard Model with leptonic and semileptonic kaon decays

We present a global analysis of leptonic and semileptonic kaon decays data, including all recent results by BNL-E865, KLOE, KTeV, ISTRA+, and NA48. Experimental results are critically reviewed and combined, taking into account theoretical (both analytical and numerical) constraints on the semileptonic kaon form factors. This analysis leads to a very accurate determination of Vus and allows us to perform several stringent tests of the Standard Model.We present a global analysis of leptonic and semileptonic kaon decays data, including all recent results by BNL-E865, KLOE, KTeV, ISTRA+, and NA48. Experimental results are critically reviewed and combined, taking into account theoretical (both analytical and numerical) constraints on the semileptonic kaon form factors. This analysis leads to a very accurate determination of Vus and allows us to perform several stringent tests of the Standard Model

Research Priorities in Atrial Fibrillation Screening A Report From a National Heart, Lung, and Blood Institute Virtual Workshop

Clinically recognized atrial fibrillation (AF) is associated with higher risk of complications, including ischemic stroke, cognitive decline, heart failure, myocardial infarction, and death. It is increasingly recognized that AF frequently is undetected until complications such as stroke or heart failure occur. Hence, the public and clinicians have an intense interest in detecting AF earlier. However, the most appropriate strategies to detect undiagnosed AF (sometimes referred to as subclinical AF) and the prognostic and therapeutic implications of AF detected by screening are uncertain. Our report summarizes the National Heart, Lung, and Blood Institute's virtual workshop focused on identifying key research priorities related to AF screening. Global experts reviewed major knowledge gaps and identified critical research priorities in the following areas: (1) role of opportunistic screening; (2) AF as a risk factor, risk marker, or both; (3) relationship between AF burden detected with long-term monitoring and outcomes/treatments; (4) designs of potential randomized trials of systematic AF screening with clinically relevant outcomes; and (5) role of AF screening after ischemic stroke. Our report aims to inform and catalyze AF screening research that will advance innovative, resource-efficient, and clinically relevant studies in diverse populations to improve the diagnosis, management, and prognosis of patients with undiagnosed AF

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022

Context In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM).Objective To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS).Methods We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset.Results Fifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin.Conclusion NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy