A 2-year prospective densitometric study on the influence of Fok-I gene polymorphism in young patients with thalassaemia major.

UNLABELLED: This study is to estimate the degree of genetic contribution of Fok-I gene polymorphism of Vitamin D receptor to bone mass in patients with thalassaemia. Results indicate a protective role of the f allele of the Fok-I gene polymorphism when found in homozygosity on bone mineral density of young thalassemic patients. INTRODUCTION: The purpose of this study is to estimate prospectively the degree of genetic contribution of Fok-I gene polymorphism of vitamin D receptor (VDR) to the evolution of bone mass in patients with beta-thalassemia major (b-TH). METHODS: Sixty-four children and young adults (33 males and 31 females) with mean decimal age of 23.20 ± 5.41 (range 9.25-32.41 years) were recruited in this study. All patients were genotyping for Fok-I gene polymorphism and were assessed with dual energy X-ray absorptiometry (DXA) at baseline and 2 years after. Z-scores were calculated based on normal age and sex matched Caucasian population. Metabolites of vitamin D, intact PTH, total calcium, inorganic phosphorous, and alkaline phosphatase were measured at the serum pre-transfusion. RESULTS: A moderate proportion of patients had decreased DXA Z-scores (Z-score ≤-2) predominately in total hip (31 %) and secondary in lumbar spine (15.6 %). Patients being homozygous for the f allele had apparently higher BMD Z-scores compared with those carrying the F allele in homo- or heterozygosity, however, with a difference that did not reached significance. Interestingly enough, a significant deterioration in BMD Z-scores measured at femur (FF: P = 0.004 Ff: P < 0.001, ff: P = 0.024) and total hip (FF: P = 0.022, Ff: P = 0.005) was recorded for all type of genotypes, except for ff genotype and with regard to the total hip DXA values. An increased prevalence of serum 25(OH)D3 deficiency (59.4 %) and 25(OH)D3 borderline (12.5 %) was recorded. CONCLUSION: Our study indicates a protective role of the f allele of the Fok-I gene polymorphism when found in homozygosity on bone mineral density of young patients with b-TM.

Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece.

BACKGROUND: Gaucher disease (GD) is a lysosomal storage disorder characterized by severe skeletal complications. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. The objective of this case series was to analyze the long-term effect of enzyme replacement therapy on chemokines MIP-1a and MIP-1b, cytokines IL-3, IL-6, IL-10, and IL-12, osteoprotegerin (OPG) and osteocalcin (BGP), chitotriosidase, quantitative ultrasound sonography (QUS), bone magnetic resonance imaging (MRI) and dual-energy X-ray absorptiometry (DXA) in patients with GD in Northern Greece. In addition, the study aimed in investigating possible relationship between the above mentioned parameters. PATIENTS AND METHODS: Seven patients with GD type I (three males and four females) were included in the study. Mean age was 26.29 ± 15.34 years (range 7-47 years). Six patients were receiving enzyme replacement therapy (ERT), with 40-60 IU/kg of imiglucerase weekly, for a mean period of 36 months prior to study initiation. One patient started ERT after his inclusion in the study. The levels of MIP-1a, MIP-1b, IL-3, IL-6, IL-10, IL-12, OPG, BGP, chitotriosidase, bone imaging parameters assessed with two different techniques (QUS and DXA) and MRI data were estimated at baseline (T0) and after two years on ERT. RESULTS: Chitotriosidase, MIP-1a, and IL-6 levels decreased in all patients after two years of ERT (p =0.05). In contrast, OPG and BGP levels increased (p =0.04 and p =0.02, respectively). Bone mineral density (BMD) demonstrated a progressive improvement with regards to the Z-score in all patients (p =0.05). The decrease in the plasma levels of MIP-1a strongly correlated with a decrease in the plasma levels of chitotriosidase. Additionally, decreased plasma levels of IL-6 were correlated with increased Z-score both at baseline (T0) as well as two years later, in all patients. There was no correlation between MRI findings and any inflammatory biomarker. CONCLUSIONS: Measurement of serum markers in patients with GD under ERT could be used as an auxiliary tool in the monitoring of bone involvement, in combination with MRI imaging and BMD. However, larger studies involving higher numbers of GD patients are needed to confirm these conclusions. Hippokratia 2016, 20(2): 153-159.

Defining overweight and obesity among Greek children living in Thessaloniki: International versus local reference standards.

BACKGROUND: Body Mass Index (BMI) offers a simple and reasonable measure of obesity that, with the use of the appropriate reference, can help in the early detection of children with weight problems. Our aim was to compare the two most commonly used international BMI references and the national Greek BMI reference in identifying Greek children being overweight and obese. METHODS: A group of 1557 children (820 girls and 737 boys, mean age: 11.42 ± 3.51 years) were studied. Weight and height was measured using standard methods, and BMI was calculated. Overweight and obesity were determined using the International Obesity Task Force (IOTF) standards, the Centers for Disease Control and Prevention (CDC) BMI-forage curves and the most recent Greek BMI-for-age curves. RESULTS: RESULTS showed that the IOTF's cut-off limits identifies a significantly higher prevalence of overweight (22.4%) compared with both the CDC's (11.8%, p=0.03) and the Greek's (7.4%, p=0.002) cut-off limits. However, the prevalence of obesity was generally increased when it was determined using the CDC's cut-off limits (13.9%) compared to the prevalence calculated with both the IOTF's (6.5%, p=0.05) and the Greek's (6.9%, n.s.) cut off limits. CONCLUSIONS: The use of the national Greek reference standards for BMI underestimates the true prevalence of overweight and obesity. On the contrary, both the IOTF and the CDC standards, although independently, detect an increased number of overweight and obese children and thus they should be adopted in the clinical practice for an earlier identification and a timelier intervention.

Multiple myeloma and bone disease: pathogenesis and current therapeutic approaches.

Multiple myeloma is a haematologic malignancy caused by clonal expansion of malignant plasma cells and associated with bone disease and hypercalcaemia. Myeloma cells are in close proximity to sites of active bone resorption and the interactions between those cells, osteoblasts and osteoclasts, are crucial not only for the bone distraction but for the proliferation of bone marrow cells as well. Recent studies have revealed that numerous regulating factors of osteoblast and osteoclast activity interfere with the pathogenesis of multiple myeloma's bone disease and that the understanding of the pathophysiological pathways involved is the first step towards discovering novel potential therapeutic approaches.

Integrative evaluation of the ecological quality of metalliferous streams (Chalkidiki, Macedonia, Hellas).

The present study reports on a year-long (November 1997-November 1998) study of water quality in streams of the Olympias and Skouries areas of Chalkidiki (Hellas), subject to past and present mining activities. Benthic macroinvertebrates were collected from 18 sampling sites at five sampling intervals, while several physicochemical parameters of the water (D.O., pH, temperature, nutrients etc.) were also measured. Five European biotic indices and scores and two multivariate statistical methods (CANOCO, FUZZY) were applied to the macroinvertebrate data. The concentration of various trace metals in the water, sediment, fish and crustaceans were also measured. Most sampling stations exhibited a highly diverse macroinvertebrate fauna during the whole year. However, a slight amelioration of water quality was observed during the high-flow period (winter and early spring), regarding diversity of several invertebrate groups, especially pollution-sensitive families, which decreased. The European biotic indices and scores proved to be relatively ineffective in describing water quality and it is suggested that an Hellenic biotic indice or score should be created. The bioaccumulation studies indicated variable effects of trace metals and organic load on macroinvertebrates according to the degree of load.

Evolution of digestion of carbohydrates in the separate parts of the digestive tract of the edible snail Helix lucorum (Gastropoda: Pulmonata: Stylommatophora) during a complete 24-hour cycle and the first days of starvation.

In the present study we examined carbohydrase activities during a complete 24-h cycle and during the first days of starvation in both adult and juvenile snails. The results indicated the predominant role of the digestive gland in the secretions of the enzymes responsible for degradation of most of the carbohydrates tested. Salivary glands secreted some digestive enzymes but in amounts lower than secreted by digestive gland. Enzymatic activities fluctuated during the first hours of digestion and also after the digestive tract was empty. The relatively high enzymatic activities recorded 24 h after the intake of food and during starvation could be due to the circadian rhythm of this species and/or to the participation of an existing microflora in the digestive tract of Helix lucorum. The double origin (exogenous and endogenous) of some digestive enzymes such as cellulases is discussed.