INTRODUCTION: Sleep disturbances are prevalent among patients with heart failure (HF) and may trigger acute exacerbations of the condition. However, the causal relationship between sleep disturbances and HF remains uncer...INTRODUCTION: Sleep disturbances are prevalent among patients with heart failure (HF) and may trigger acute exacerbations of the condition. However, the causal relationship between sleep disturbances and HF remains uncertain. This study aimed to explore the association and potential causal relationship between sleep disturbances and HF. MATERIAL AND METHODS: Observational study: NHANES data (2005-2008) involving 10,432 participants. Sleep disturbances defined as insomnia, sleep disorders, difficulty falling asleep, trouble sleeping, and nocturnal awakening. Mendelian randomization (MR) study: Genetic variants linked to sleeplessness were obtained from GWAS datasets. MR two-sample analysis was conducted using summary statistics from sleeplessness and HF GWASs. RESULTS: After full adjustment, the association between insomnia and HF remained significant, with an OR of 5.10 (1.81-14.33, = 0.003). After full adjustment, the association between sleep disorder and HF remained significant, with an OR of 3.51 (1.67-7.39; = 0.002). The IVW method provided evidence supporting a causal association between sleeplessness and HF (OR = 1.535, SE = 0.177, = 0.016). MR-Egger analysis demonstrated a causal association between sleeplessness and HF (OR = 3.333, SE = 0.493, = 0.023). Our observational study may be influenced by unaddressed confounding factors; however, Mendelian randomization helps mitigate the bias and confounding commonly found in non-genetic observational research. CONCLUSIONS: Our study identified a correlation between sleep disturbances and HF, potentially suggesting a causal relationship. Addressing sleep disturbances may be a key strategy in reducing the risk of HF.
INTRODUCTION: Previous studies have linked placental weight (PW) to cardiovascular diseases, but the causality and potential mediators underlying this relationship are still unknown. MATERIAL AND METHODS: We conducted Me...INTRODUCTION: Previous studies have linked placental weight (PW) to cardiovascular diseases, but the causality and potential mediators underlying this relationship are still unknown. MATERIAL AND METHODS: We conducted Mendelian randomization (MR) analysis via summary statistics from genome-wide association studies (GWAS), including PW adjusted for sex, 21 candidate mediators and atherosclerotic cardiovascular disease (ASCVD), which includes coronary heart disease (CHD) and ischemic stroke (IS). Two-step MR was employed to identify and assess the mediation and proportion of potential mediators in the association between PW and ASCVD. Additionally, we conducted a repeated analysis using PW adjusted for gestational age and sex. RESULTS: Univariable MR (UVMR) analysis revealed that for each 1-SD decrease in fetal genotype-determined PW adjusted for sex only, the risk of CHD increased by 24% (95% CI: 1.05-1.46) and the risk of large artery stroke (LAS) increased by 46% (95% CI: 1.13-1.89). Similar results were obtained in repeated analyses. The mediation MR analysis revealed that the causal relationship between fetal genotype-determined PW and CHD risk was primarily mediated by birthweight, type 2 diabetes, and education, each mediating 3.66% to 40.80% of the total effect. The causal relationship between fetal genotype-determined PW and LAS risk was mediated mainly by type 2 diabetes, which accounted for 22.11% of the total effect. CONCLUSIONS: This study identified a unidirectional causal relationship between lower PW and a greater ASCVD risk, with factors such as birthweight, type 2 diabetes, and education mediating the association between PW and ASCVD.
INTRODUCTION: Lipid metabolism is pivotal in diabetic retinopathy (DR) development. Nevertheless, the relationship between lipid-lowering drugs and the risk of DR remains a topic of debate. This study employed Mendelian...INTRODUCTION: Lipid metabolism is pivotal in diabetic retinopathy (DR) development. Nevertheless, the relationship between lipid-lowering drugs and the risk of DR remains a topic of debate. This study employed Mendelian randomization (MR) to investigate the potential effects of pharmacological lipid-lowering targets on DR and to clarify the causal association between blood lipid characteristics and DR. MATERIAL AND METHODS: The data comprised genetic variations related to lipid traits and genetic variations associated with lipid-lowering drug targets obtained from the Global Lipid Consortium. Total DR, non-proliferative DR (NPDR), and proliferative DR (PDR) were sourced from the Finnish R9 database. Lipid-lowering drug targets were tested using inverse variance-weighted MR (IVW-MR) and statistics-based MR (SMR). Colocalization and mediation analysis were conducted to validate the results and explore potential mediating factors. RESULTS: A reduced risk of total DR and NPDR was associated with genetically improved 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) (OR = 0.62; 95% CI: 0.46-0.83; = 1.30 × 10; OR = 0.49; 95% CI: 0.34-0.70; = 9.70 × 10). Strong colocalization (PP.H4 = 0.85) was observed between whole blood tissue HMGCR expression and a significant MR relationship with total DR (OR = 0.66; 95% CI: 0.52-0.85; = 7.31 × 10). Furthermore, body mass index (BMI) and glycated hemoglobin (HbA) are critical factors that mediate the impact of HMGCR and apolipoprotein B (APOB) on DR risk. CONCLUSIONS: This Mendelian randomization study suggests that abnormalities in triglyceride (TG) levels serve as a pathogenic element in DR. Of the nine lipid-lowering drug targets assessed, HMGCR and APOB have emerged as potential promising targets for managing NPDR. These findings underscore the importance of controlling both BMI and HbA levels to optimize outcomes in diabetic patients at risk for DR. The therapeutic mechanisms of HMGCR and APOB in DR go beyond lipid lowering alone, and a multimodal lipid-lowering strategy should be selected early and comprehensively to address the patient's medical conditions.
INTRODUCTION: We aimed to explore the possible link between the post-thaw culture duration and singleton birthweight resulting from frozen embryo transfer (FET) cycles. MATERIAL AND METHODS: In this retrospective study,...INTRODUCTION: We aimed to explore the possible link between the post-thaw culture duration and singleton birthweight resulting from frozen embryo transfer (FET) cycles. MATERIAL AND METHODS: In this retrospective study, 216 singletons were analyzed between January 2017 and December 2018 in our center. FET cycles were allocated to two main groups based on the interval between the moment of thawing and embryo transfer. The main outcome measure was the birthweight of singletons after FET. The confounding factors for singleton birthweight were evaluated using multiple linear regression analysis. RESULTS: The mean singleton birthweight resulting from the long culture transfer group was not significantly different from singletons resulting from the short culture transfer group. The -scores for singletons were also not significantly different; however, the long culture transfer group had a higher proportion of small for gestational age (SGA) than the short culture transfer group. Using multiple linear regression analysis, we found that infant gender, gestational age and maternal BMI significantly affect singleton birthweight, while the duration of post-thaw culture had no effects on newborn birthweight. CONCLUSIONS: Our study suggested that post-thaw culture duration did not affect the birthweight of singleton newborns. But singleton newborns from long post-thaw culture after a hormone replacement therapy (HRT) may have a higher risk of SGA.
INTRODUCTION: Biallelic pathogenic variants in the gene are associated with familial lipoprotein lipase (LPL) deficiency. Homozygotes exhibit very severe hypertriglyceridemia (HTG) already in childhood, with phenotypic...INTRODUCTION: Biallelic pathogenic variants in the gene are associated with familial lipoprotein lipase (LPL) deficiency. Homozygotes exhibit very severe hypertriglyceridemia (HTG) already in childhood, with phenotypic features such as pancreatitis, abdominal pain and xanthomata. Recent studies showed that HTG levels varied greatly between monoallelic pathogenic/likely pathogenic variant carriers. The aim of our study was to investigate whether heterozygotes for pathogenic variants in the gene in the Polish population may have clinical symptoms and, if so, to what extent. MATERIAL AND METHODS: Genetic data were derived from a Polish cohort of 5623 whole exome sequenced patients. In 52 cases the indication for WES genetic testing was "hypertriglyceridemia '' and for 5571 there was another clinical indication, mainly autism spectrum disorder, dysmorphia and neurodegenerative diseases. RESULTS: We present 22 heterozygous and 2 homozygous/compound heterozygous individuals for the pathogenic/likely pathogenic LPL variant and describe HTG levels, phenotypic manifestations and age of onset in the context of molecular findings where available. We report for the first time heterozygous LPL individuals with very severe HTG (TG ≥ 22.6 mmol/l; > 2000 mg/dl) and additional symptoms such as pancreatitis and recurrent abdominal pain. CONCLUSIONS: We argue that although the individuals carrying the single LPL pathogenic/likely pathogenic variant display the whole disease spectrum, the severe phenotype of heterozygotes with dominantly inherited LPL-related HTG may also exist.
INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) is a prevalent and nonalcoholic, progressive liver disorder associated with metabolic disturbance. This study aimed to compare the efficacy of a wheat flour or bake...INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) is a prevalent and nonalcoholic, progressive liver disorder associated with metabolic disturbance. This study aimed to compare the efficacy of a wheat flour or baker's yeast restricted diet with traditional calorie restriction in NAFLD patients. MATERIAL AND METHODS: The analysed data were obtained from 243 individuals with NAFLD, who completed the study. Of these patients, 54 belonged to Group (1) (standard diet, SD), 104 belonged to Group (2) (wheat flour-free diet, WFFD), and 85 belonged to Group (3) (yeast-free diet, YFD). The intervention period lasted 6 months, during which participants' dietary compliance was closely monitored. Anthropometric measurements, liver function tests, and imaging studies were conducted at baseline, after 3 months, and at the endpoint. RESULTS: At the end of the 6-month trial, both the WFFD and YFD groups exhibited a noteworthy reduction in body mass index (BMI) and triglyceride (TG) levels when compared to a standard diet that only involved calorie restriction. Furthermore, a notable reduction in the severity of liver steatosis was seen in these groups ( < 0.05). The SD group did not exhibit any significant changes in these metrics. The WFFD group experienced a notable reduction in Hepatic Steatosis Index (HSI)values ( < 0.05). Cluster analysis revealed that the obese group had higher HSI, weight, and BMI values throughout the study period, indicating a more advanced stage of NAFLD. CONCLUSIONS: This study highlights the significance of food constituents and dietary strategies in the treatment of NAFLD. It suggests that limiting the intake of wheat flour and baker's yeast specifically could have positive effects on liver well-being. Nevertheless, it is imperative to conduct comprehensive and enduring investigations that consider the genetic and metabolic variations among individuals. The results of this study provide evidence that customised dietary approaches designed to meet people's specific nutritional requirements could be crucial in the treatment of NAFLD.
Banach M, Fogacci F, Atanasov AG
… +11 more, Stoian AP, Jóźwiak J, Bytyçi I, Pećin I, Katsiki N, Mazidi M, Gouni-Berthold I, Penson PE, Gaita D, Cicero AFG, International Lipid Expert Panel (ILEP)
Cardiovascular disease (CVD), particularly atherosclerotic cardiovascular disease (ASCVD), is the most common cause of death worldwide. Despite decades of research into lifestyle factors and medications, we still cannot...Cardiovascular disease (CVD), particularly atherosclerotic cardiovascular disease (ASCVD), is the most common cause of death worldwide. Despite decades of research into lifestyle factors and medications, we still cannot effectively prevent the occurrence of ASCVD or the many incident CVD events and their complications. Yet, in most countries, only a small percentage of the healthcare budget is allocated to (primary) prevention, and only a few nations have introduced effective integrated (coordinated) programmes in primary prevention to promote health education, invest in health as early as possible, and prevent adverse CVD events. The International Lipid Expert Panel SiMple tIps for the heaLthy hEart (ILEP-SMILE) responds to this significant ineffectiveness by offering the most comprehensive population approach, including early, effective education, improvement of all recognised risk factors, alongside those that remain frequently unmeasured, such as lipoprotein(a), factors which are often overlooked such as sleep disturbances and alcohol consumption, and the challenging aspect of stress, and its effect on cardiovascular health. Finally, ILEP-SMILE places considerable emphasis on adherence as a result of education; without it, even efficient lifestyle changes and the most innovative drugs may not yield the expected outcomes. This is also a loud call to action and international collaboration to jointly address the lifetime burden of cardiovascular disease.
INTRODUCTION: Recent research has shown a rise in the prevalence of autism spectrum disorder (ASD) worldwide. At the same time, care for ASD children was found to affect the psychological health of parents or guardians o...INTRODUCTION: Recent research has shown a rise in the prevalence of autism spectrum disorder (ASD) worldwide. At the same time, care for ASD children was found to affect the psychological health of parents or guardians of ASD children. The aim of the study was to identify the wellbeing of parents raising ASD children and to explore the experiences of primary health care (PHC) psychologists in providing support to them. MATERIAL AND METHODS: We conducted a cross-sectional study. Parents of ASD children took part in the survey. Wellbeing was assessed using the Parental Well-Being Scale including physical and emotional health, stress, social support, and quality of life. Ten primary care psychologists were also interviewed. RESULTS: Three hundred and twenty-seven parents of ASD children participated in our study. The mean wellbeing score for all parents was 52.6 ±15.65 points. The highest scoring aspects of wellbeing were enjoyment in looking after the child (mean 7.29 points) and quality of life (mean 6.87 points). The strongest predictor of parental wellbeing was presence of a disability diagnosis for the ASD child (6.33 points), with lower parental wellbeing (β = 0.20, < 0.001). The interview results show the insufficient competence of psychologists to work with parents of children with ASD. CONCLUSIONS: On the Parental Well-Being Scale, the highest scores were observed for enjoyment in looking after the child and quality of life. Insufficient work is carried out by PHC psychologists with parents of children with ASD. There is a need for future training of psychologists in the management of children with ASD and their parents.