Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study).

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).

Inflammation-Related Markers and Thyroid Function Measures in Pediatric Patients: Is the Grade of Obesity Relevant?

We aimed to investigate the effect of weight status on inflammation-related markers and thyroid function tests in overweight and obese pediatric patients. Children and adolescents diagnosed between January 2017 and January 2019 with overweight or obesity were included in the study. Neutrophil-to-lymphocyte ratio (NLR), platelet-to lymphocyte ratio (PLR) and systemic immune-inflammation index (SII) were calculated for the groups defined according to Body Mass Index (BMI)-for-age z-score: overweight (≥1 BMI-for-age z-score), obese (≥2 BMI-for-age z-score) and severely obese (≥3 BMI-for-age z-score). Severely obese patients had significantly higher value of white blood cells (WBC) counts (median = 7.92) compared with overweight patients (7.37, p = 0.014). Absolute lymphocyte count was significantly associated with obesity degree in children (Spearman's Rho coefficient ρ = 0.228. p = 0.035), whereas absolute polymorphonuclear neutrophils (PMNCs) count was significantly higher in severely obese adolescents than overweight adolescents (overweight: 4.04 vs. severely obese: 5.3 (p = 0.029)). In 8.19% of patients an elevated thyroid-stimulating hormone (TSH) level was found, and 3.36% of patients had a low level of free thyroxine with an elevated level of TSH. Total absolute WBC count may be a reliable inflammation-related marker in obese pediatric patients without metabolic syndrome, but needs to be validated in the context of all possible covariates. Subclinical and overt hypothyroidism may develop from an early age in overweight or obese patients.

Role of Adiponectin and Tumor Necrosis Factor-Alpha in the Pathogenesis and Evolution of Type 1 Diabetes Mellitus in Children and Adolescents.

Type 1 diabetes mellitus (T1DM) is a complex condition caused by the destruction of pancreatic beta cells by autoimmune mechanisms. As a result, insulin deficiency and subsequent hyperglycemia occur. The aim of the present study is to investigate the role of adiponectin and tumor necrosis factor alpha (TNF-α) in the development of T1DM. The study is designed as an observational case-control study, involving 52 diabetic patients and 66 controls. Z scores for Body Mass Index (BMI), weight, height, and adiponectin and TNF-α serum levels were assessed in both groups. The T1DM group had significantly higher TNF-α levels and a significantly higher proportion of high-risk patients for inflammation based on TNF-α values as compared to the control group, while both groups had statistically similar adiponectin levels and a similar proportion of high/medium-risk patients based on adiponectin values. TNF-α plays a significant role in the pathogenesis and evolution of T1DM and it may represent an additional marker of disease progression, as well as a potential target of immunotherapeutic strategies. In the present study, no statistically significant differences were recorded in adiponectin levels neither in diabetic patients and controls, nor in high/medium severity risk diabetic patients.

Follow-up Evaluation of Association between Weight Changes, Metabolic, and Hormonal Outcomes in Children - a Single-center Pilot Study.

INTRODUCTION: Fasting blood glucose, insulin level, and lipid profile are the minimal tests according to the Romanian guidelines to evaluate obese children. Cross-sectional studies for pediatric obesity in Romania focused only on epidemiology and management. AIM: Our study aimed to evaluate the metabolic and hormonal changes in association with follow-up bodyweight modifications. MATERIALS AND METHODS: Medical charts of overweight or obese children presenting at the First Paediatric Hospital, Cluj-Napoca from January 2017 to March 2019 were retrospectively evaluated. Anthropometric measures [e.g., body mass index (BMI), and waist circumference] and blood tests such as inflammatory markers (e.g., white blood cell and neutrophil absolute/relative counts, C-reactive protein), metabolic parameters (e.g., liver enzymes, uric acid, fasting blood glucose, triglycerides, high-density lipoprotein-cholesterol), fasting blood insulin, and cortisol levels were evaluated. RESULTS: Twenty-two overweight or obese children (17 girls, median age of 13 years) monitored on median for 7.5 months were in-cluded in the study. Blood glucose level significantly decreased (p=0.010) and fasting insulin levels increased (p=0.051) at follow-up evaluation, independently of BMI-for-age z-score. Fasting insulin levels were associated with waist circumference (Spearman's rank cor-relation coefficient) ρ=0.58, p=0.030). BMI-for-age z-score proved to be associated with the C-reactive protein level at baseline (ρ=0.70, p=0.036, n=9) and high-density lipoprotein cholesterol at follow-up (ρ=-0.52, p=0.033, n=17). CONCLUSIONS: Present analysis found changes in fasting insulin levels in relation to the abdominal circumference and high-density lipoprotein cholesterol and C-reactive protein levels in relation to BMI-for-age z-score in obese children.

The Role Of Adiponectin, TNF-α And Glutathione In The Pathogenesis And Evolution Of Type 1 Diabetes.

INTRODUCTION: Type 1 diabetes (T1DM) is a chronic autoimmune or idiopathic condition, featuring complex and unique interactions between proteins and enzyme systems. The purpose of the present study is to investigate the role of AdipoQ +276G>T, TNF-α-308G>A, GSTT1/GSTM1 polymorphic variants in the development of T1DM. MATERIALS AND METHODS: The study is designed as a cross-sectional study, involving 72 diabetic cases and 90 controls. Genotyping was carried out according to specific protocols for the above-mentioned polymorphic variants. RESULTS: The G allele of AdipoQ was associated with the development of type 1 diabetes (OR 0.577, CI95% 0.336-0.802, p=0.001), similar to the GG and GA genotypes (OR 0.405, CI95% 0.156-0.654, p=0.001 and OR 0.623, CI95% 0.401-0.855, p=0.004). The G allele of TNF-α was marginally associated with the development of type 1 diabetes (OR 0.789, CI95% 0.579-0.956, p=0.005). The presence of the T1 genotype was a strong predictor for type 1 diabetes (OR 3.4, CI95% 1.433-6.243, p<0.001). CONCLUSION: The results of our study suggest that G alleles of AdipoQ and TNFα act as a protective factor in T1DM, while the T1 allele for GST could be considered a risk factor for the development of Type 1 diabetes in our study group.