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J Clin Pathol 2003;56:937-941 Background: Tangier disease (TD) is the phenotypic expression of rare familial syndromes with mutations in the ABCA1 transporter. TD results in extremely low high density lipoprotein [...]

Familial hypercholesterolemia (FH) is a relatively common autosomal monogenic disease with dominant inheritance and threefold to fourfold increase in relative risk of cardiovascular death in untreated patients. For a 'definitive' clinical diagnosis of FH the Simon Broome Register proposes the presence of tendon xanthomas as a key feature. However, detection of tendon xanthomas by physical examination is subjective and difficult to use for follow-up purposes. Several instrumental methods have been reported to be more sensitive than physical examination for the evaluation of xanthomas. The present case illustrates the usefulness of computed tomography (CT) to detect xanthomas in the Achilles tendons (XAT) and their regression in response to hypolipidemic drug treatment in a heterozygous FH patient. As XAT are atherosclerotic plaque-like depositions of lipids it is likely that their progression or regression follows the behavior of vascular atherosclerotic lesions. [ABSTRACT FROM AUTHOR]

Abstract Background This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia. Methods We selected and genotyped 80 men and postmenopausal women heterozygous for familial hypercholesterolaemia (main group) as well as 11 healthy control subjects. Patients were subgrouped based on their response to oral fat tolerance test. The oral fat tolerance test was defined as pathological when postprandial triglyceride concentration was higher than the highest triglyceride concentration observed in healthy subjects (220 mg/dl) at any time (2, 4, 6 or 8 h). Results In the pathological subgroup, men had significantly higher incremental area under the curve after oral fat tolerance test than postmenopausal women. Furthermore, multivariate analysis revealed a gender association of TaqIB and I405V influence on postprandial lipaemia in this subgroup. Conclusion In conclusion, it seems that gender and TaqIB polymorphism of the cholesteryl ester transfer protein gene were both associated with the distribution of triglyceride values after oral fat tolerance test, only in subjects with a pathological response to oral fat tolerance test. Specifically, men carrying the B2 allele of the TaqIB polymorphism showed a higher postprandial triglyceride peak and a delayed return to basal values compared with women carrying B2. However, further investigations in larger populations are required to replicate and confirm these findings.

Abstract Background The metabolic syndrome (MetS), as well as postprandial hypertriglyceridemia, is associated with coronary heart disease. This study aimed to evaluate the postprandial lipemia after oral fat tolerance test (OFTT) in subjects with MetS and compare them to hypertensive (HTN) and healthy subjects. Results OFTT was given to 33 men with MetS (defined by the Adult Treatment Panel III), 17 HTN and 14 healthy men. The MetS group was further divided according to fasting triglycerides (TG) into TG ≥ 150 [MetS+TG, (n = 22)] or The postprandial response was significantly higher in MetS compared to HTN and healthy men [AUC (SD) in mg/dl/h; 2534 ± 1016 vs. 1620 ± 494 and 1019 ± 280, respectively, p ≤ 0.001]. The TG levels were increased significantly in MetS+TG compared to MetS-TG subjects at 4 (p = 0.022), 6 (p < 0.001) and 8 hours (p < 0.001). The TG were increased significantly in MetS-TG compared to healthy subjects at 4 (p = 0.011), 6 (p = 0.001) and 8 hours (p = 0.015). In linear regression analysis only fasting TG levels were a significant predictor of the AUC (Coefficient B = 8.462, p < 0.001). Conclusion Fasting TG concentration is the main determinant of postprandial lipemia. However, an exaggeration of TG postprandialy was found in normotriglyceridemic MetS and HTN compared to healthy subjects. This suggests that intervention to lower fasting TG levels should be recommended in MetS subjects.

Abstract Background Low levels of high density lipoprotein (HDL) cholesterol and disturbed postprandial lipemia are associated with coronary heart disease. In the present study, we evaluated the variation of triglyceride (TG) postprandially in respect to serum HDL cholesterol levels. Results Fifty two Greek men were divided into 2 main groups: a) the low HDL group (HDL < 40 mg/dl), and b) the control group. Both groups were further matched according to fasting TG (matched-low HDL, and matched-control groups). The fasting TG concentrations were higher in the low HDL group compared to controls (p = 0.002). The low HDL group had significantly higher TG at 4, 6 and 8 h postprandially compared to the controls (p = 0.006, p = 0.002, and p < 0.001, respectively). The matched-low HDL group revealed higher TG only at 8 h postprandially (p = 0.017) compared to the matched-control group. ROC analysis showed that fasting TG ≥ 121 mg/dl have 100% sensitivity and 81% specificity for an abnormal TG response (auc = 0.962, p < 0.001). Conclusions The delayed TG clearance postprandially seems to result in low HDL cholesterol even in subjects with low fasting TG. The fasting TG > 121 mg/dl are predictable for abnormal response to fatty meal.

The intention of this study was to profile the cohort from the Greek Registry for the prevalence of Familial Hypercholesterolemia (GRegistry-FH) by estimating the prevalence of coronary artery disease (CAD), myocardial infarction (MI), stroke, dyslipidemia, arterial hypertension, diabetes mellitus (DM), pre-DM, smoking, abnormal thyroid function (ATF), and lipid values. The GRegistry-FH is a prospective study involving door-to-door interviews conducted by trained interviewers. Overall, 7704 individuals aged ≥18 years, randomly selected from all the regions of Greece, participated. The prevalence of atherosclerotic cardiovascular disease (ASCVD) was 13.9% (CAD 6%, MI 3.2%, stroke 4.7%). Treated hypercholesterolemia was present in 20.1%, arterial hypertension in 24%, and DM in 11.3% individuals (25.5% had pre-DM). The prevalence of smoking was 37.9% (29% current) and the prevalence of ATF was 13.1% (hypothyroidism 11.3%). A family history of ASCVD was reported by 60.5% (CAD 32.2%, stroke 28.3%). The mean (SD) lipid values in mg/dL were as follows: total cholesterol of 201.8 (41.5), low-density lipoprotein cholesterol of 126.3 (30.1), high-density lipoprotein cholesterol of 51.9 (12.5), and triglycerides of 135.9 (64.7). The GRegistry-FH highlights the significant prevalence of ASCVD and its risk factors among Greek adults, indicating a pressing need for early detection and management strategies to mitigate ASCVD burden. This nationwide registry serves as a crucial tool for guiding public health policies and personalized preventive measures (NCT03140605).

Antibiotics, recognized as Emerging Contaminants (ECs), have raised concerns due to their pervasive presence in wastewater treatment plants (WWTPs) and subsequent release into aquatic environments, posing potential ecological risks and contributing to the development of antibiotic-resistant genes. The COVID-19 pandemic prompted an unprecedented surge in antibiotic consumption, necessitating a comprehensive assessment of its impact on antibiotic levels in wastewater. In this light, a four-year monitoring study (2020-2023) was conducted in a WWTP located in the Northern Greece (Thessaloniki), employing High-Resolution Mass Spectrometry (HRMS) technology to monitor twenty antibiotics, during distinct phases pre-, during, and post-COVID-19. Our findings revealed that macrolides and fluoroquinolones were among the most often detected categories during the sampling period. Among the compounds detected, azithromycin and clarithromycin showed the most significant increases during the pandemic, doubling their average concentrations. This establishes a clear correlation between the rise in their concentrations and the incidence of COVID-19 cases. A general downward trend after 2021 was attributed to the new restrictions posed in Greece during this year, regarding the liberal prescription of antibiotics. Seasonal variation revealed a minute augmentation of antibiotics' use during the months that infections are increased. Additionally, the study highlights the ecological risks associated with elevated antibiotic presence and emphasizes the need for continued monitoring and regulatory measures to mitigate potential ecological repercussions. These findings contribute to our understanding of the complex interplay between antibiotic consumption, environmental presence, and the COVID-19 pandemic's impact on antibiotic pollution in WWTPs., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Persistent, mobile, and toxic chemicals (PMT), such as the antimycotic climbazole-(CBZ), proliferate in water cycle and imperil drinking water quality, sparking off research about their environmental fate. Unlike the parent compound, its transformation products-(TPs) are scarcely investigated, much less as PMTs. To this end, phototransformation of CBZ was investigated. A novel suspect-screening workflow was developed and optimized by cross-comparing the results of the identified photo-TPs against literature data to create an enhanced HRMS-database for environmental investigations of CBZ/TPs in the water cycle. In total, 24 TPs were identified, 14 of which are reported for the first time. Isomerism, dechlorination, hydroxylation, and cleavage of the ether or C-N bond are suggested as the main transformation routes. A screening of CBZ/TPs was conducted in wastewater, leachates, surface, and groundwater, revealing a maximum concentration of 464.8 ng/L in groundwater. In silico and in vitro methods were used for toxicity assessment, indicating toxicity for CBZ and some TPs. Seemingly, CBZ is rightly considered as PMT, and a higher potential to occur in surface or groundwater than non-PM chemicals appears. Likewise, the occurrence of TPs due to PMT properties or emission patterns was evaluated., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Introduction: Visfatin is involved in nicotinamide adenine dinucleotide biosynthesis, with a possible role in spermatogenesis. We investigated seminal plasma visfatin levels and its possible correlations with sperm parameters (concentration, motility, morphology) and BMI., (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

The intensification of agricultural production during the last decades has forced the rapid increase in the use of pesticides that finally end up in the aquatic environment. Albeit well-documented, pesticides continue to raise researchers' attention, because of their potential adverse impacts on the environment and, inevitably, humans. Once entering the aquatic bodies, pesticides undergo biotic and abiotic processes, resulting in transformation products (TPs) that sometimes are even more toxic than the parent compounds. A substantial shift of the scientific interest in the TPs of pesticides has been observed since their environmental fate, occurrence and toxicity is still in its formative stage. In an ongoing effort to expand the existing knowledge on the topic, several interesting works have been performed mostly in European countries, such as France, Germany, Italy, Switzerland, Greece, and Spain that counts the highest number of relevant publications. Pesticide TPs have been also studied to a lesser extent in Asia, North and South America. To this end, the main objective of this review is to delineate the global occurrence, fate, toxicity as well as the analytical challenges related to pesticide TPs in surface, ground, and wastewaters, with the view to contribute to a better understanding of the environmental problems related with TPs formation. The concentration levels of the TPs, ranging from the low ng/L to high μg/L scale and distributed worldwide. Ultimately, an attempt to predict the acute and chronic toxicity of TPs has been carried out with the aid of an in-silico approach based on ECOSAR, revealing increased chronic toxicity for the majority of the identified TPs, despite the change they underwent, while a small portion of them presented serious acute toxicity values., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)