A Case of Amyloid Goitre in Heavy Chain Amyloidosis: Diagnostic Challenges and Clinical Implications.

Immunoglobulin heavy chain amyloidosis (AH amyloidosis) is an extremely rare subtype of immunoglobulin-derived amyloidosis and there is limited literature on how to diagnose and manage this disorder. We describe a rare case of AH amyloidosis with amyloid goitre and the importance of mass spectrometry in the identification of the different types of amyloids. While additional studies are needed, several observations suggest important practical implications, including differences in clinical picture, prognosis, and pathologic diagnosis. LEARNING POINTS: Immunoglobulin heavy chain amyloidosis is an extremely rare subtype of immunoglobulin-derived amyloidosis and amyloid goitre is even rarer.There is limited literature on how to diagnose and manage this disorder.This case portrays one of these cases - one of the few existing in the literature - and reinforces the diagnostic complexity of this entity.

High prevalence of cardiovascular disease and risk factors among type 2 diabetes patients followed in a hospital setting in Portugal: The PICT2RE observational study.

INTRODUCTION AND OBJECTIVES: Portugal is a country with a high prevalence of type 2 diabetes (T2D) and cardiovascular disease (CVD). The prevalence of CVD and cardiovascular (CV) risk factors among T2D patients followed in hospitals in Portugal is not known. The primary objective of this study was to assess the prevalence of CVD and CV risk factors among T2D patients in a hospital setting in Portugal. The clinical management of CVD in the hospital setting was also assessed. METHODS: We performed a non-interventional, multicenter, cross-sectional study with a retrospective phase. T2D patients were consecutively invited to participate. Data were collected retrospectively. RESULTS: A total of 715 patients were included in the study. Mean age and diabetes duration were 66.6 and 17.4 years, respectively. Of these, 286 patients (40.0%) had been diagnosed with CVD, mostly ischemic heart disease (50.4%). All patients had at least one CV risk factor. CVD was significantly associated with hypertension, hypercholesterolemia, low high-density lipoprotein cholesterol, hypertriglyceridemia and smoking. During the three years prior to study inclusion, the incidence of hyperglycemic episodes and T2D complications increased among patients with established CVD, but the numbers of hospitalization episodes and specialist appointments remained stable. An improvement was observed in key cardiometabolic risk factors. CONCLUSIONS: Our study revealed a high prevalence of CVD and CV risk factors among a sample of T2D patients in a hospital setting. Patients with established CVD seem to be adequately managed but further efforts are needed at the prevention stage for better control of risk factors and morbidity.

A Randomized Trial of the Close Reading and Creative Writing Program: An Alternative Educational Method for Adult Group Care Intervention in Type 2 Diabetes Management.

OBJECTIVES: Group care for individuals with diabetes is a recognized educational practice, but techniques from narrative medicine using of literary works have never been incorporated in these programs. We designed a new educational model (i.e. the Close Reading and Creative Writing program) of group care for individuals with diabetes incorporating close reading and creative writing in group education. A randomized trial was designed to evaluate this intervention. METHODS: A total of 49 individuals with type 2 diabetes, aged <85 years and with >6 years of school education, were randomized to 2 different group care dynamics: (a) a "control group," with a classical structured educational approach currently used at our institution; and (b) an "intervention group," with introduction of literary texts, narrative skills, close reading and creative writing. Evaluation included anthropometric measures, glycated hemoglobin (A1C) and questionnaires for psychological evaluation. Individual A1C levels in the 6-year period before the trial were collected from clinical records. RESULTS: A significant reduction of A1C was observed in the intervention group, showing noninferiority in relation to the classical approach. A significant decrease in A1C was observed in relation to the 6 previous years. A significant increase in satisfaction with the therapist and group process was observed. CONCLUSIONS: This is the first randomized trial designed to evaluate a group care intervention to manage type 2 diabetes using narrative techniques. The results suggest that this may be a useful model for more highly schooled individuals, and may represent an alternative for the educational process.

Nation-building policies in Timor-Leste: disaster risk reduction, including climate change adaptation.

Few studies have explored the relationships between nation-building, disaster risk reduction and climate change adaptation. Focusing on small island developing states, this paper examines nation-building in Timor-Leste, a small island developing state that recently achieved independence. Nation-building in Timor-Leste is explored in the context of disaster risk reduction, which necessarily includes climate change adaptation. The study presents a synopsis of Timor-Leste's history and its nation-building efforts as well as an overview of the state of knowledge of disaster risk reduction including climate change adaptation. It also offers an analysis of significant gaps and challenges in terms of vertical and horizontal governance, large donor presence, data availability and the integration of disaster risk reduction and climate change adaptation for nation-building in Timor-Leste. Relevant and applicable lessons are provided from other small island developing states to assist Timor-Leste in identifying its own trajectory out of underdevelopment while it builds on existing strengths.

Familial non-medullary thyroid carcinoma (FNMTC): analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations.

Linkage analysis has identified four familial non-medullary thyroid carcinoma (FNMTC) susceptibility loci: fPTC/PRN (1p13.2-1q22), NMTC1 (2q21), MNG1 (14q32) and TCO (19p13.2). To date, there is no evidence for the involvement of genes from the RAS/RAF signalling pathway in FNMTC. The aim of our study was to evaluate the role of the four susceptibility loci, and RAS/RAF signalling pathway genes, in FNMTC. In total, 8 FNMTC families, and 27 thyroid lesions from family members (22 papillary thyroid carcinomas (PTCs): 11 classic, 10 of the follicular variant and 1 of the mixed variant; 4 follicular thyroid adenomas (FTAs) and 1 nodular goitre (NG)), were evaluated for the involvement of the four susceptibility regions, using linkage and loss of heterozygosity (LOH) analyses. BRAF and H-, N- and K-RAS mutations were also screened in the 27 lesions and patients. Linkage analysis in seven informative families showed no evidence for the involvement of any of the four candidate regions, supporting a genetic heterogeneity for FNMTC. Twenty tumours (74%), of which 18 were PTCs, showed no LOH at the four susceptibility loci. The remaining seven tumours (four PTCs, two FTAs and one NG) showed variable patterns of LOH. Fourteen tumours (52%) had somatic mutations: BRAF-V600E mutation was observed in 9 out of the 22 PTCs (41%); and H-RAS and N-RAS mutations were detected in 5 out of the 22 PTCs (23%). Our data suggest that the four candidate regions are not frequently involved in FNMTC and that the somatic activation of BRAF and RAS plays a role in FNMTC tumourigenesis.