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Beckwith-Wiedemann spectrum (BWSp) is caused by genetic and epigenetic alterations on chromosome 11 that regulate cell growth and division. Considering the diverse phenotypic landscape in BWSp, the characterization of the CDKN1C molecular subtype remains relatively limited. Here, we investigate the role of CDKN1C in the broader BWSp phenotype. Notably, patients with CDKN1C variants appear to exhibit a different tumor risk than other BWSp molecular subtypes. We performed a comprehensive literature review using the search term "CDKN1C Beckwith" to identify 113 cases of patients with molecularly confirmed CDKN1C-BWSp. We then assessed the genotype and phenotype in a novel cohort of patients with CDKN1C-BWSp enrolled in the BWS Research Registry. Cardinal and suggestive features were evaluated for all patients reported, and tumor risk was established based on available reports. The most common phenotypes included macroglossia, omphalocele, and ear creases/pits. Tumor types reported from the literature included neuroblastoma, acute lymphocytic leukemia, superficial spreading melanoma, and intratubular germ cell neoplasia. Overall, this study identifies unique features associated with CDKN1C variants in BWSp, enabling more accurate clinical management. The absence of Wilms tumor and hepatoblastoma suggests that screening for these tumors may not be necessary, while the neuroblastoma risk warrants appropriate screening recommendations., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

High-sensitivity C-reactive protein (hs-CRP) is a widely used clinical biomarker of systemic inflammation, implicated in many chronic conditions, including type 1 diabetes (T1D). Despite the increasing emphasis on dietary intake as a modifiable risk factor for systemic inflammation, the association of hs-CRP with fruit and vegetable consumption is relatively underexplored in T1D. To address this gap, we investigated the longitudinal associations of dietary pattern-derived fruit and vegetable scores with hs-CRP in adults with and without T1D. Additionally, we examined the impact of berry consumption as a distinct food group. Data were collected in the Coronary Artery Calcification in Type 1 Diabetes study over two visits that were three years apart. At each visit, participants completed a food frequency questionnaire, and hs-CRP was measured using a particle-enhanced immunonephelometric assay. Mixed effect models were used to examine the three-year association of fruit and vegetable scores with hs-CRP. Adjusted models found a significant inverse association between blueberry intake and hs-CRP in the nondiabetic (non-DM) group. Dietary Approaches to Stop Hypertension- and Alternative Healthy Eating Index-derived vegetable scores were also inversely associated with hs-CRP in the non-DM group (all p-values ≤ 0.05). Conversely, no significant associations were observed in the T1D group. In conclusion, dietary pattern-derived vegetable scores are inversely associated with hs-CRP in non-DM adults. Nonetheless, in T1D, chronic hyperglycemia and related metabolic abnormalities may override the cardioprotective features of these food groups at habitually consumed servings. [ABSTRACT FROM AUTHOR]

Background: Sleep-related disorders have been associated with cognitive decline and neurodegeneration. American Indians are at increased risk for dementia. Here, we aim to characterize, for the first time, the associations between sleep characteristics and subsequent cognitive performance in a sample of aging American Indians. Methods: We performed analyses on data collected in two ancillary studies from the Strong Heart Study, which occurred approximately 10 years apart with an overlapping sample of 160 American Indians (mean age at follow-up 73.1, standard deviation 5.6; 69.3% female and 80% with high school completion). Sleep measures were derived by polysomnography and self-reported questionnaires, including sleep timing and duration, sleep latency, sleep stages, indices of sleep-disordered breathing, and self-report assessments of poor sleep and daytime sleepiness. Cognitive assessment included measures of general cognition, processing speed, episodic verbal learning, short and long-delay recall, recognition, and phonemic fluency. We performed correlation analyses between sleep and cognitive measures. For correlated variables, we conducted separate linear regressions. We analyzed the degree to which cognitive impairment, defined as more than 1.5 standard deviations below the average Modified Mini Mental State Test score, is predicted by sleep characteristics. All regression analyses were adjusted for age, sex, years of education, body mass index, study site, depressive symptoms score, difference in age from baseline to follow-up, alcohol use, and presence of APOE e4 allele. Results: We found that objective sleep characteristics measured by polysomnography, but not subjective sleep characteristics, were associated with cognitive performance approximately 10 years later. Longer sleep latency was associated with worse phonemic fluency (β = -0.069, p = 0.019) and increased likelihood of being classified in the cognitive impairment group later in life (odds ratio 1.037, p = 0.004). Longer duration with oxygen saturation < 90% was associated with better immediate verbal memory, and higher oxygen saturation with worse total learning, short and long-delay recall, and processing speed. Conclusion: In a sample of American Indians, sleep characteristics in midlife were correlated with cognitive performance a decade later. Sleep disorders may be modifiable risk factors for cognitive impairment and dementia later in life, and suitable candidates for interventions aimed at preventing neurodegenerative disease development and progression. [ABSTRACT FROM AUTHOR]

Dyslipidemia caused by abnormal lipid profiles significantly increases the risk of cardiovascular disease (CVD) in individuals with diabetes. Effective management necessitates a comprehensive approach that encompasses lifestyle modifications and pharmacological intervention. Lifestyle adjustments such as adopting a healthy diet and engaging in regular physical activity play a crucial role in managing dyslipidemia. Avoiding foods high in saturated fat, trans fat, and cholesterol, while incorporating high-fiber foods and omega-3 fatty acids, helps regulate lipid profiles. Regular exercise increases high-density lipoprotein (HDL) cholesterol levels, promotes weight loss, and aids in managing dyslipidemia. While behavioral changes are beneficial, pharmacological treatments are pivotal. Statins are the cornerstone for managing dyslipidemia in diabetic patients, regardless of standard lipid levels, due to their ability to lower low-density lipoprotein (LDL) cholesterol levels. Additional lipid-lowering agents such as ezetimibe, bile acid sequestrants, and PCSK9 inhibitors may complement treatment strategies to improve lipid profiles. The advancements include new formulations of antidiabetic medications that demonstrate favorable effects on lipid parameters in diabetic patients. Sodiumglucose co-transporter-2 (SGLT-2) inhibitors and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) not only provide cardiovascular benefits but also aid in lowering lipid levels. SGLT-2 inhibitors reduce LDL cholesterol and triglyceride levels, while GLP-1 RAs primarily target triglycerides and LDL cholesterol levels. [ABSTRACT FROM AUTHOR]

Previous studies provided evidence for the importance of cardiac structure abnormalities, in particular greater left ventricular (LV) mass, for brain aging, but longitudinal studies are lacking to date. We included 926 individuals (median age 48 years; 53% women) from the TREND cohort of the Study of Health in Pomerania (SHIP) without reduced ejection fraction or a history of myocardial infarction. LV mass index (LVMI) was determined by echocardiography at baseline. Brain morphometric measurements were derived from magnetic resonance images at baseline and 7‐year follow‐up. Direct effects of baseline LVMI on brain morphometry at follow‐up were estimated using linear regression models with adjustment for baseline brain morphometry. At baseline, median LVMI was 40 g/m2.7 and 241 individuals (26%) met the criterion of LV hypertrophy. After correction for multiple testing, baseline LVMI was directly associated with reduced global cortical thickness and increased cortical brain age at follow‐up independent from hypertension and blood pressure. Exposure‐outcome relations were nonlinear and significantly stronger in the upper half of the exposure distribution. Specifically, an increase in baseline LVMI from the 50% quantile to the 95% quantile was associated additional 2.7 years (95% confidence interval = [1.5 years, 3.8 years]) of cortical brain age at follow‐up. Additional regional analyses yielded bilateral effects on multiple frontal cortical regions. Our findings highlight the role of cardiac structure in brain aging. LVMI constitutes an easily measurable marker that might help to identify persons at risk for cognitive impairment and dementia. [ABSTRACT FROM AUTHOR]

The complex anatomy of the aortic root is of great importance for many surgical and transcatheter cardiac procedures. Therefore, the aim of this study was to provide a comprehensive morphological description of the nondiseased aortic root. We morphometrically examined 200 autopsied human adult hearts (22.0% females, 47.9 ± 17.7 years). A meticulous macroscopic analysis of aortic root anatomy was performed. The largest cross-section area of the aortic root was observed in coaptation center plane (653.9 ± 196.5 mm 2 ), followed by tubular plane (427.7 ± 168.0 mm 2 ) and basal ring (362.7 ± 159.1 mm 2 ) (p < 0.001). The right coronary sinus was the largest (area: 234.3 ± 85.0 mm 2 ), followed by noncoronary sinus (218.7 ± 74.8 mm 2 ) and left coronary sinus (201.2 ± 78.08 mm 2 ). The noncoronary sinus was the deepest, followed by right and left coronary sinus (16.4 ± 3.2 vs. 15.9 ± 3.1 vs. 14.9 ± 2.9 mm, p < 0.001). In 68.5% of hearts, the coaptation center was located near the aortic geometric center. The left coronary ostium was located 15.6 ± 3.8 mm above sinus bottom (within the sinus in 91.5% and above sinutubular junction in 8.5%), while for right coronary ostium, it was 16.2 ± 3.5 mm above (83.5% within sinus and 16.5% above). In general, males exhibited larger aortic valve dimensions than females. A multiple forward stepwise regression model showed that anthropometric variables might predict the size of coaptation center plane (age, sex, and heart weight; R 2  = 31.8%), tubular plane (age and sex; R 2  = 25.6%), and basal ring (age and sex; R 2  = 16.9%). In conclusion, this study presents a comprehensive analysis of aortic-root morphometry and provides a platform for further research into the intricate interplay between structure and function of the aortic root., (© 2024 The Authors. Clinical Anatomy published by Wiley Periodicals LLC on behalf of American Association of Clinical Anatomists and British Association of Clinical Anatomists.)

The European Commission asked EFSA to update its 2009 risk assessment on arsenic in food carrying out a hazard assessment of inorganic arsenic (iAs) and using the revised exposure assessment issued by EFSA in 2021. Epidemiological studies show that the chronic intake of iAs via diet and/or drinking water is associated with increased risk of several adverse outcomes including cancers of the skin, bladder and lung. The CONTAM Panel used the benchmark dose lower confidence limit based on a benchmark response (BMR) of 5% (relative increase of the background incidence after adjustment for confounders, BMDL05) of 0.06 μg iAs/kg bw per day obtained from a study on skin cancer as a Reference Point (RP). Inorganic As is a genotoxic carcinogen with additional epigenetic effects and the CONTAM Panel applied a margin of exposure (MOE) approach for the risk characterisation. In adults, the MOEs are low (range between 2 and 0.4 for mean consumers and between 0.9 and 0.2 at the 95th percentile exposure, respectively) and as such raise a health concern despite the uncertainties. [ABSTRACT FROM AUTHOR]

NaAsO 2 is known as a harmful pollutant all over the world, and many chronic heart diseases can be attributed to its prolonged exposure in NaAsO 2 -contaminated water. Therefore, considering the anti-inflammatory and antioxidant effects of betaine (BET), in this study, our team investigated the cardioprotective effects of this phytochemical agent on sodium arsenite (NaAsO 2 )-induced cardiotoxicity. Forty male mice were randomly divided into 4 groups: (I) Control; (II) BET (500 mg/kg); (III) NaAsO 2 (50 ppm); and (IV) NaAsO 2  + BET. NaAsO 2 was given to the animals for 8 weeks, but BET was given in the last two weeks. After decapitation, inflammatory factors and biochemical parameters were measured, and Western blot analyses were performed. BET decrease the activity level of alanine aspartate aminotransferase, creatine kinase MB, thiobarbituric acid reactive substances level, inflammatory factors (tumor necrosis factor-α) content, and nuclear factor kappa B expression. Furthermore, BET increased cardiac total thiol and activity levels of catalase, superoxide dismutase, and glutathione peroxidase and nuclear factor erythroid-2 expression. Hence, the administration of BET ameliorated the deleterious effects stemming from the imbalance of oxidative and antioxidant pathways and histopathological alterations observed in NaAsO 2 -intoxicated mice, thereby attenuating oxidative stress-induced damage and inflammation., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Diabetes-related dyslipidemia is a multifaceted, complicated disorder characterized by an abnormal lipid profile in individuals with diabetes. The incidence of different types of dyslipidemia, however, was not a focus of prior investigations. The patients were characterized into three categories of dyslipidemia. Different patterns of dyslipidemia were combined into single dyslipidemia (7 patterns), mixed dyslipidemia (16 patterns), and triple dyslipidemia (4 patterns)., Methods: In this cross-sectional study, 586 people suffering from type 2 diabetes mellitus (T2DM) were included. We assessed the serum lipid profile and used log (TG/HDL-C) to determine the atherogenic index of plasma (AIP). Dyslipidemia was examined as a categorical variable, and the findings were presented as percentages and numbers. To compare categorical variables, we either utilized Fisher exact tests or Chi square tests., Results: The study comprised of 586 T2DM patients, with 310 (52.9%) women and 276 (47.1%) men. Women have significantly higher hypertension (33.6%) as compared to men (23.2%). 18.94% (111) of patients were having coronary artery disease (CAD) history consisting of 12.28% (72) females and 6.66% (39) males, a difference which is statistically significant. 98.12% of total individuals had as a minimum of one lipid abnormality. 4.61% (27) of study subjects were having isolated dyslipidemia and 93.51% (548) had dual or triple pattern of dyslipidemia (mixed dyslipidemia). High AIP >0.24 (94.8%) was the most predominant trend of dyslipidemia. The dual combination of AIP (>0.24) and HDL (<50 mg/dL in Females and <40 mg/dL in Males) was found to be the most common pattern of mixed dyslipidemia (68.08%). The most prevalent trend of isolated dyslipidemia was found to be high AIP (>0.24), In patients with CAD history. Among the mixed dyslipidemia, the common pattern of dyslipidemia (71.17%) was the dual combination of high AIP (>0.24) and low HDL (<50 mg/dL women and <40 mg/dL males). The triple combination of TG (≥200 mg/dL) and HDL (<40 and <50 mg/dL) and LDL (≥100 mg/dL) was only found in females., Conclusion: In conclusion, dyslipidemia is highly prevalent in T2DM patients, with mixed dyslipidemia being the most common type observed in the community of Kashmir valley, India. High AIP was the most prevalent pattern in the current investigation., (© 2023 Wiley Periodicals LLC.)

Globally, there is a growing acknowledgment of Indigenous Peoples' rights to control data related to their communities. This is seen in the development of Indigenous Data Governance standards. As health data collection increases, it's crucial to apply these standards in research involving Indigenous communities. Our study, therefore, aims to systematically review research using routinely collected health data of Indigenous Peoples, understanding the Indigenous Data Governance approaches and the associated advantages and challenges. We searched electronic databases for studies from 2013 to 2022, resulting in 85 selected articles. Of these, 65 (77%) involved Indigenous Peoples in the research, and 60 (71%) were authored by Indigenous individuals or organisations. While most studies (93%) provided ethical approval details, only 18 (21%) described Indigenous guiding principles, 35 (41%) reported on data sovereignty, and 28 (33%) addressed consent. This highlights the increasing focus on Indigenous Data Governance in utilising health data. Leveraging existing data sources in line with Indigenous data governance principles is vital for better understanding Indigenous health outcomes., (© 2024. The Author(s).)

The serum level of C-reactive protein (CRP) is a significant independent risk factor for Coronavirus disease 2019 (COVID-19). A link was found between serum CRP and genetic diversity within the CRP gene in earlier research. This study examined whether CRP rs1205 and rs1800947 polymorphisms were associated with COVID-19 mortality among various severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) variants. We genotyped CRP rs1205 and rs1800947 polymorphisms in 2023 deceased and 2307 recovered patients using the polymerase chain reaction-restriction fragment length polymorphism method. There was a significant difference between the recovered and the deceased patients in terms of the minor allele frequency of CRP rs1205 T and rs1800947 G. In all three variants, COVID-19 mortality rates were associated with CRP rs1800947 GG genotype. Furthermore, CRP rs1205 CC and rs1800947 GG genotypes showed higher CRP levels. It was found that the G-T haplotype was prevalent in all SARS-CoV-2 variants. The C-C and C-T haplotypes were statistically significant in Delta and Omicron BA.5 variants, respectively. In conclusion, polymorphisms within the CRP gene may relate to serum CRP levels and mortality among COVID-19 patients. In order to verify the utility of CRP polymorphism correlation in predicting COVID-19 mortality, a replication of these results is needed., (© 2024. The Author(s).)