Three physical signs, namely tendon xanthomas, corneal arcus and xanthelasma, have been associated with heterozygous familial hypercholesterolemia (heFH). The prevalence and clinical significance of ...these signs are not well established among contemporary heFH individuals. This study explored the frequency as well as the association of these physical signs with prevalent atherosclerotic cardiovascular disease (ASCVD) in heFH individuals.
Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD.
Adult patients ( n = 2156, mean age 50 ± 15 years, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45 years was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45 years was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets.
The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45 years is independently associated with premature CAD.
Aim
This study assessed the presence of specific antibodies for coeliac disease in outpatients suffering from eating disorders before and after nutritional intervention. We also evaluated whether ...those patients should undergo regular screening for coeliac disease.
Methods
The sample consisted of 154 patients with a mean age of 16.7 years – ranging from one to 19 years of age – suffering from eating disorders. Serology screening for coeliac disease and total immunoglobulin A (IgA) levels was evaluated in the 154 children before the nutritional intervention and in 104 patients after the intervention. The patients consumed an adequate amount of gluten in both phases.
Results
Postintervention evaluation revealed that 92 patients (88.5%) achieved a normal body weight, while the remaining 12 (11.5%) became obese. Postprandial abdominal discomfort and pain were resolved. The serology tests were negative in all patients, before and after intervention. None displayed IgA deficiency.
Conclusion
To the best of our knowledge, this was the first prospective study where patients underwent a screening serology for coeliac disease before and after nutritional intervention. No indication of the coexistence of eating disorders and coeliac disease was documented, and the patients in our study were unlikely to require regular screening for coeliac disease.
We report on a 5-year-old boy with recurrent severe postinfectious rhabdomyolysis who, after systematic stepwise evaluation, was found to have the adult form of carnitine palmityl transferase II (CPT ...II) deficiency directly by blood mutation analysis. Timely diagnosis of CPT II deficiency in this case prevented further potentially devastating episodes of rhabdomyolysis by avoiding triggering factors.
Although most cases of rhabdomyolysis are nonrecurrent and benign, a metabolic myopathy, such as CPT II deficiency, should be suspected in children with episodic muscle necrosis and paroxysmal myoglobinuria.
Congenital Heart Disease (CHD) constitutes a common cause of major congenital abnormalities with prevalence around 8.2 per 1000 live births in Europe. Despite the important advances in the diagnosis, ...treatment and management of CHD patients throughout the years, it remains a challenge how to better manage the children with CHD using the biomarkers. However, in the last decade, B-type Natriuretic Peptide (BNP) and less often Adrenomedullin (ADM) and Urotensin II (UT II) have become the focus of research, in view of the improvement in the management of patients with CHD. Moreover, despite crescent evidences supporting the use of BNP as diagnostic and prognostic marker in children with CHD, its use remains limited and guidelines/expert consensus recommendations are lacking. Adrenomedullin (ADM) and Urotensin II (UT II) are two potent vasoactive peptides that might play a role in the development of pulmonary hypertension. Future studies are needed to explore the role of both peptides as biomarkers of pulmonary hypertension and their prognostic significance on the development of pulmonary hypertension in CHD patients.
•BNP in CHD in daily clinical practice is still limited.•ADM and UT II seem to be promising biomarkers in the management of CHD patients.•ADM and UT II might play a role in the development of pulmonary hypertension in CHD patients.•Future studies are needed to elucidate their role in the management of CHD patients.
Small dense low density lipoprotein-cholesterol (sdLDL-C) molecules are more atherogenic compared with large buoyant ones. Phytosterols-enriched diets are effective in decreasing total cholesterol ...(TC) and low density lipoprotein-cholesterol (LDL-C) concentrations in hyperlipidemic children without significant adverse effects. Limited data on the impact of such a diet on sdLDL-C levels is available in adults while there are no reports concerning children. The purpose of this study is to prospectively evaluate the effect of the daily consumption of 2 g of plant sterols on sdLDL-C levels in children with hypercholesterolemia.
Fifty-nine children, 25 with LDL-C ≥ 3.4 mmol/l (130 mg/dl) and 34 with LDL-C < 3.4 mmol/l, aged 4.5-15.9 years, were included in the study. A yogurt-drink enriched with 2 g of plant sterols was added to the daily diet of hypercholesterolemic children and 6-12 months later lipid profiles were reassessed. Direct quantitative methods were used to measure LDL-C and sdLDL-C levels.
The consumption of plant sterols reduced sdLDL-C significantly (p < 0.001), but levels remained higher compared with controls (p < 0.001). TC, LDL-C, non high density lipoprotein-cholesterol (NonHDL-C) and apolipoprotein B (ApoB) levels also decreased significantly (p < 0.05). The median reduction of sdLDL-C and LDL-C was 16.6% and 13%, respectively. These variables decreased >10% in sixteen children (64%), independently from baseline levels, sex, age and body mass index (BMI). High density lipoprotein-cholesterol (HDL-C), lipoprotein a Lp(a), and triglycerides (TGs) levels remained unaffected.
Plant sterols decrease sdLDL-C significantly and may be beneficial for children with hypercholesterolemia.
Background
Childhood lead poisoning remains a critical environmental health concern because even low blood lead levels (BLLs) can result in permanent adverse health effects. Social factors and living ...conditions have been correlated with BLLs. There is no recent survey about the prevalence of elevated BLLs among children in Greece. The purpose of this study was to assess BLLs among children aged 6–36 months born and living in Greece and to evaluate their association with demographic, socio‐economic and housing conditions.
Methods
In a cross‐sectional hospital‐based study including 814 randomly selected children aged 6–36 months, BLLs and haematological parameters were evaluated. A questionnaire investigating demographic and socio‐economic conditions was completed in all children. Statistical analysis was performed using STATA for Windows v.8.5, and P < 0.05 was considered statistically significant.
Results
The mean BLLs of the population were 2.78 (SD = 2.34) µg/dl, and the median was 2.02 µg/dl; 11.7% had BLLs above 5 µg/dl, while 15 children (1.8%) exceeded 10 µg/dl. Being a toddler, being Roma or Asian, living in an industrial/low‐income neighbourhood or in an old house, using traditional herbs and/or spices and having a mother with a manual occupation were independent risk factors for elevated BLLs.
Conclusion
Lead exposure remains a threat for optimal health especially for toddlers and children of socio‐economically disadvantaged families living in Greece. A nationwide survey to assess lead exposure in children is necessary to guide prevention governmental policies.