Density Functional Theory Calculation May Confirm Arsenic-Thiol Adhesion as the Primary Mechanism of Arsenical Toxicity.

Previously, it was believed that methylation was the body's primary method to detoxify inorganic arsenic. However, recent research has shown that the metabolized intermediate known as MMAIII is more toxic than arsenite and arsenate, contradicting a previous understanding. Another important question arises: is arsenical toxicity truly caused by arsenic binding to proteins through arsenic thiol adhesion? Based on the toxicity order of the experiment, with MMAIII being the most toxic, followed by arsenite, arsenate, DMAV, and MMAV, density functional theory (DFT) calculations can provide a straightforward assessment of this issue. Our practice captures all the transition states associated with a specific imaginary-frequency vibration mode, including proton transfer and simultaneous departure of leaving group. We have obtained the energy barriers for five arsenicals reacting with thiol, alcohol, and amine separately. In addition to energetic favorability, the following are the energy barriers for arsenic's reaction with thiol ranked from low to high: MMAIII (25.4 kcal/mol), arsenite (27.7 kcal/mol), arsenate (32.8 kcal/mol), DMAV (36.2 kcal/mol), and MMAV (38.3 kcal/mol). Results show that the toxicity of arsenicals is mainly caused by their reaction with thiol rather than with alcohol or amine, as supported by the trend of decreasing toxicity and increasing energy barriers. Thus, this DFT calculation may confirm the paradigm that arsenic-thiol adhesion is the primary cause of arsenic toxicity in the body.

Investigating the role of county-level colorectal cancer screening rates on stage at diagnosis of colorectal cancer in rural Georgia.

BACKGROUND: To examine the impact of county-level colorectal cancer (CRC) screening rates on stage at diagnosis of CRC and identify factors associated with stage at diagnosis across different levels of screening rates in rural Georgia. METHODS: We performed a retrospective analysis utilizing data from 2004 to 2010 Surveillance, Epidemiology, and End Results Program. The 2013 United States Department of Agriculture rural-urban continuum codes were used to identify rural Georgia counties. The 2004-2010 National Cancer Institute small area estimates for screening behaviors were applied to link county-level CRC screening rates. Descriptive statistics and multinominal logistic regressions were performed. RESULTS: Among 4,839 CRC patients, most patients diagnosed with localized CRC lived in low screening areas; however, many diagnosed with regionalized and distant CRC lived in high screening areas (p-value = 0.009). In multivariable analysis, rural patients living in high screening areas were 1.2-fold more likely to be diagnosed at a regionalized and distant stage of CRC (both p-value < 0.05). When examining the factors associated with stage at presentation, Black patients who lived in low screening areas were 36% more likely to be diagnosed with distant diseases compared to White patients (95% CI, 1.08-1.71). Among those living in high screening areas, patients with right-sided CRC were 38% more likely to have regionalized disease (95% CI, 1.09-1.74). CONCLUSION: Patients living in high screening areas were more likely to have a later stage of CRC in rural Georgia. IMPACT: Allocating CRC screening/treatment resources and improving CRC risk awareness should be prioritized for rural patients in Georgia.

Colorectal cancer survival disparities in the five regions of Georgia.

BACKGROUND/OBJECTIVE: The objective of this study was to examine 5-year colorectal cancer survival rates. We also determined whether demographics, tumor characteristics, and treatment modality were associated with 5-year CRC survival in the Clayton, West Central, East Central, Southeast, and Northeast Georgia regions because the significant higher CRC mortality rates in these regions in comparison to the overall rates in the State of Georgia. METHODS: We conducted a retrospective cohort analysis using data from the 1975-2016 Surveillance, Epidemiology, and End Results program aggregated CRC patients to these five regions. Five-year CRC survival was calculated and stratified by the five regions of Georgia, using the Kaplan-Meier method with log-rank test. Cox proportional hazard regression was used to examine the mentioned association in these five regions. RESULTS: Among 11,023 CRC patients, 5-year CRC survival was lowest in Clayton (65.9%) compared to the West Central (69.0%), East Central (68.2%), Southeast (70.5%), and Northeast regions (69.5%) (p-value = 0.02). In multivariable analysis, greater risk of CRC death was found in the Clayton region compared to the West Central (HR, 1.12; 95%, 1.00-1.25) region when adjusting for demographics, tumor characteristics, and treatment modality. Among Clayton Georgians, age of 75+ years (HR, 2.13; 95%, 1.56-2.89), grade 3 & 4 tumors (HR, 2.22; 95%, 1.64-3.00), and distant stage (HR, 20.95; 95%, 15.99-27.45) were negatively associated with CRC survival. CONCLUSION: We observed place-based differences in CRC survival with significantly lower survival rates in the Clayton region. Factors associated with higher risk of CRC death include older age at diagnosis, high-grade tumors, and distant stage CRC among Clayton Georgians. Our study provides important evidence to all relevant stakeholders in furthering the development of culturally tailored CRC screening interventions aimed at CRC early detection and improved outcomes.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. RESULTS: The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype-phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p < .001). SIGNIFICANCE: This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype-phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling.

Temporal trends in early-onset colorectal cancer incidence (2000-2020) by age group and five geographic regions in the state of Georgia.

The increase of early-onset colorectal cancer (CRC) among younger adults is a major public health concern. However, little is known about variations in CRC incidence across different age groups within small geographic areas in Georgia. We examined temporal trends of CRC incidence in Clayton, East Central, West Central, Northeast, and Southeast regions, by age groups. Annual incidence rates for CRC in individuals aged 15+ years during 2000-2020 in the five regions of Georgia were included. Temporal trends were examined within the five regions and stratified by age group. Joinpoint regression was employed to calculate the annual percent change and corresponding 95% confidence intervals (CIs). Among 20,215 CRC diagnoses, CRC incidence declined over time for East Central (-2.33%; 95% CI, -3.03, -1.64), Northeast (-1.63%; 95% CI, -2.15, -1.04), Southeast (-1.63%; 95% CI, -2.30, -0.96), and West Central (-1.53%; 95% CI, -2.04, -1.03) Georgia. In the 15-44 age group, a notable increase of CRC incidence was found in Clayton, Northeast, and Southeast regions with a range of 2.2%-3.4%. However, adults aged 60+ years experienced a significant decrease in CRC incidence for most Georgia regions (all p-value <0.05), except for the Clayton region. In conclusion, CRC incidence declined during 2000-2020 in most Georgia regions. However, early-onset CRC is a major concern in Georgia as young adults (<45 years) living in Clayton, Northeast, and Southeast Georgia experienced significant annual increases in CRC incidence. Targeted CRC screening and awareness campaigns should be prioritized for adults <45 years and in the most impacted areas in Georgia.

Racial disparities in the relationship of regional socioeconomic status and colorectal cancer survival in the five regions of Georgia.

INTRODUCTION: The study's purpose was to examine 5-year colorectal cancer (CRC) survival rates between White and Black patients. We also determined whether regional socioeconomic status (SES) is associated with CRC survival between White and Black patients in the Clayton, West Central, East Central, Southeast, and Northeast Georgia public health districts. METHODS: We performed a retrospective cohort analysis using data from the 1975 to 2016 Surveillance, Epidemiology, and End Results program. The 2015 United States Department of Agriculture Economic Research Services county typology codes were used to identify region-level SES with persistent poverty, low employment, and low education. Kaplan-Meier method and Cox proportional hazard regression were performed. RESULTS: Among 10,876 CRC patients (31.1% Black patients), 5-year CRC survival rates were lower among Black patients compared to White patients (65.4% vs. 69.9%; p < 0.001). In multivariable analysis, White patients living in regions with persistent poverty had a 1.1-fold increased risk of CRC death (HR, 1.12; 95% CI, 1.00-1.25) compared to those living in non-persistent poverty regions. Among Black patients, those living in regions with low education were at a 1.2-fold increased risk of CRC death (HR, 1.19; 95% CI, 1.01-1.40) compared to those living in non-low education regions. DISCUSSION AND CONCLUSIONS: Black patients demonstrated lower CRC survival rates in Georgia compared to their White counterparts. White patients living in regions with persistent poverty, and Black patients living in regions with low education had an increased risk of CRC death. Our findings provide important evidence to all relevant stakeholders in allocating health resources aimed at CRC early detection and prevention and timely referral for CRC treatment by considering the patient's regional SES in Georgia.

Rural-Urban Disparities in Telemedicine Use Among U.S. Adults with Cancer.

Introduction: The COVID-19 pandemic has resulted in significant changes in health care delivery worldwide, including the widespread adoption of telemedicine. This study examines the prevalence of telemedicine use among cancer survivors in the United States based on rurality and investigates its association with telemedicine use. Methods: The 2021 National Health Interview Survey was used to analyze telemedicine use among cancer survivors during the pandemic. Telemedicine use was the primary outcome, and rurality was the main exposure. Descriptive statistics and multiple logistic regression models were used to examine the association. Results: Out of 27,500 eligible cancer survivors, 51.6% reported using telemedicine in 2021. Telemedicine usage varied across rural areas, with 41.4% of rural cancer survivors using telemedicine compared with 57.5% of cancer survivors in large metropolitan areas (p < 0.001). Rural cancer survivors had significantly lower odds of using telemedicine during the pandemic compared with large metropolitan cancer survivors. Cancer survivors residing in rural areas were 0.56 times less likely (odds ratio [OR] = 0.56; 95% confidence interval [CI] = 0.41-0.75), and those residing in medium and small metropolitan areas were 0.69 times less likely (OR = 0.69; 95% CI = 0.56-0.86) to report telemedicine use compared with cancer survivors in large metropolitan areas. Conclusions: Substantial disparities in telemedicine use were observed between rural and urban areas among cancer survivors. Rural cancer survivors were less likely to utilize telemedicine during the COVID-19 pandemic. Ensuring equitable access to telemedicine requires continued reimbursement for telemedicine services, along with additional efforts to improve access to and utilization of health care for rural cancer survivors.

Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations.

The development of the cerebral cortex involves a series of dynamic events, including cell proliferation and migration, which rely on the motor protein dynein and its regulators NDE1 and NDEL1. While the loss of function in NDE1 leads to microcephaly-related malformations of cortical development (MCDs), NDEL1 variants have not been detected in MCD patients. Here, we identified two patients with pachygyria, with or without subcortical band heterotopia (SBH), carrying the same de novo somatic mosaic NDEL1 variant, p.Arg105Pro (p.R105P). Through single-cell RNA sequencing and spatial transcriptomic analysis, we observed complementary expression of Nde1/NDE1 and Ndel1/NDEL1 in neural progenitors and post-mitotic neurons, respectively. Ndel1 knockdown by in utero electroporation resulted in impaired neuronal migration, a phenotype that could not be rescued by p.R105P. Remarkably, p.R105P expression alone strongly disrupted neuronal migration, increased the length of the leading process, and impaired nucleus-centrosome coupling, suggesting a failure in nucleokinesis. Mechanistically, p.R105P disrupted NDEL1 binding to the dynein regulator LIS1. This study identifies the first lissencephaly-associated NDEL1 variant and sheds light on the distinct roles of NDE1 and NDEL1 in nucleokinesis and MCD pathogenesis.

County-level colorectal cancer screening rates on colorectal cancer survival in the state of Georgia: Does county-level rurality matter?

PURPOSE: Investigating CRC screening rates and rurality at the county-level may explain disparities in CRC survival in Georgia. Although a few studies examined the relationship of CRC screening rates, rurality, and/or CRC outcomes, they either used an ecological study design or focused on the larger population. METHODS: We conducted a retrospective analysis utilizing data from the 2004-2010 Surveillance, Epidemiology, and End Results Program. The 2013 United States Department of Agriculture rural-urban continuum codes and 2004-2010 National Cancer Institute small-area estimates for screening behaviors were used to identify county-level rurality and CRC screening rates. Kaplan-Meier method and Cox proportional hazard regression were performed. RESULTS: Among 22,160 CRC patients, 5-year CRC survival rates were lower among CRC patients living in low screening areas in comparison with intermediate/high areas (69.1% vs. 71.6% /71.3%; p-value = 0.030). Patients living in rural high-screening areas also had lower survival rates compared to non-rural areas (68.2% vs. 71.8%; p-value = 0.009). Our multivariable analysis demonstrated that patients living in intermediate (HR, 0.91; 95% CI, 0.85-0.98) and high-screening (HR, 0.92; 95% CI, 0.85-0.99) areas were at 8%-9% reduced risk of CRC death. Further, non-rural CRC patients living in intermediate and high CRC screening areas were 9% (HR, 0.91; 95% CI, 0.83-0.99) and 10% (HR, 0.90; 95% CI, 0.82-0.99) less likely to die from CRC. CONCLUSIONS: Lower 5-year survival rates were observed in low screening and rural high-screening areas. Living in intermediate/high CRC screening areas was negatively associated with the risk of CRC death. Particularly, non-rural patients living in intermediate/high-screening areas were 8%-9% less likely to die from CRC. Targeted CRC screening resources should be prioritized for low screening and rural communities.

The relationship of cancer history and chronic disease status to colorectal cancer screening: A cross-sectional analysis of 2020-2021 Behavioral Risk Factor Surveillance System.

PURPOSE: We examined whether having a history of cancer and chronic diseases was associated with guideline-concordant colorectal cancer (CRC) screening utilization. METHODS: Self-reported data from the 2020 and 2021 Behavioral Risk Factor Surveillance System in Oregon and West Virginia were used. Guideline-concordant CRC screening was the outcome of interest. The exposure was having a personal history of cancer, chronic diseases, or both. Multivariable logistic regressions were applied to assess the abovementioned association. RESULTS: Among 10,373 respondents aged 45-75 years, 75.5% of those with a history of cancer and chronic diseases had guideline-concordant CRC screening use versus 52.8% of those without any history (p-value < 0.05). In multivariable analysis, having a history of cancer (OR 1.74; 95% CI 1.11-2.71), chronic diseases (OR 1.35; 95% CI 1.14-1.59), and both cancer and chronic diseases (OR 2.14; 95% CI 1.62-2.82) were positively associated with screening uptake compared to respondents without any history. Regardless of disease history, older age was associated with greater CRC screening uptake (p-value < 0.05). Among respondents with chronic diseases only or without any condition, those with a health care provider had 1.7-fold and 2.7-fold increased odds of receiving CRC screening, respectively. However, current smokers were 28% and 34% less likely to be screened for CRC among those with chronic diseases only and without any conditions, respectively. CONCLUSION: Having a personal history of cancer and chronic diseases appears to be positively associated with guideline-concordant CRC screening use. Effective implementation of patient-centered communication through primary care initiatives may increase adherence to CRC screening recommendations.

A lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.

Lissencephaly is a neurodevelopmental disorder characterized by a loss of brain surface convolutions caused by genetic variants that disrupt neuronal migration. However, the genetic origins of the disorder remain unidentified in nearly one-fifth of people with lissencephaly. Using whole-exome sequencing, we identified a de novo BAIAP2 variant, p.Arg29Trp, in an individual with lissencephaly with a posterior more severe than anterior (P>A) gradient, implicating BAIAP2 as a potential lissencephaly gene. Spatial transcriptome analysis in the developing mouse cortex revealed that Baiap2 is expressed in the cortical plate and intermediate zone in an anterior low to posterior high gradient. We next used in utero electroporation to explore the effects of the Baiap2 variant in the developing mouse cortex. We found that Baiap2 knockdown caused abnormalities in neuronal migration, morphogenesis and differentiation. Expression of the p.Arg29Trp variant failed to rescue the migration defect, suggesting a loss-of-function effect. Mechanistically, the variant interfered with the ability of BAIAP2 to localize to the cell membrane. These results suggest that the functions of BAIAP2 in the cytoskeleton, cell morphogenesis and migration are important for cortical development and for the pathogenesis of lissencephaly in humans.

A pharmacogenetic study of perampanel: association between rare variants of glutamate receptor genes and outcomes.

Introduction: The selection of antiseizure medication usually requires a trial-and-error process. Our goal is to investigate whether genetic markers can predict the outcome of perampanel (PER) use in patients with epilepsy. Method: The studied participants were selected from our previous epilepsy genetics studies where whole exome sequencing was available. We reviewed the medical records of epilepsy patients older than 20 years old treated with PER. The outcome of PER treatment included the response to PER, the occurrence of any adverse drug reaction (ADR), the presence of behavior ADR, and the ability to adhere to PER for more than 1 year. We investigated the association between the rare variants of the glutamate receptor genes and the outcomes of PER use. Result: A total of 83 patients were collected. The gene group burden analysis showed that enriched genetic variants of the glutamate receptor gene group were statistically significantly associated with the occurrence of ADR, while the glutamate ionotropic receptor delta type subunit had a nominal association with the occurrence of ADR. The gene collapse analysis found that GRID1 had a nominal association with the occurrence of ADR and GRIN3A had a nominal association with the occurrence of behavior ADR. However, these nominal associations did not remain statistically significant once adjusted for multiple testing. Discussion: We found that enriched rare genetic variants of the glutamate receptor genes were associated with the occurrence of ADR in patients taking PER. In the future, combining the results of various pharmacogenetic studies may lead to the development of prediction tools for the outcome of antiseizure medications.

Rural, Regional, Racial Disparities in Telemedicine Use During the COVID-19 Pandemic Among US Adults: 2021 National Health Interview Survey (NHIS).

Objective: The primary objective of this study is to conduct a comparative analysis of telemedicine utilization patterns among adult populations residing in both rural and urban areas and evaluate the probability of telemedicine adoption among adults dwelling in both rural and urban areas amid the backdrop of the COVID-19 pandemic. Methods: Our study has attained sample populations (n = 279,260, National Weighted Estimates = 2,391,188,373) through the secondary analysis of the National Health Interview Survey (NHIS) for the year 2021. We examined the relationship between the rural, regional, and racial variables using chi-square tests and binary logistic regression associated with telemedicine use in our multivariable analysis. Results: Telemedicine use by population decreased with decreasing urbanization level, from 40.2% among adults living in large central metropolitan to 29.7% among adults living in rural area (p<0.0001). Regarding household income, adults with 400% or more of the federal poverty level (FPL) were significantly more likely to use telemedicine than adults with less than 100% of the FPL. Females were more likely than males to utilize telemedicine. In terms of region, adults living in the West were 1.25 times more likely to use telemedicine than adults living in the Northeast, and minority race/ethnicity groups (eg, Non-Hispanic Black, Hispanic, and other) are less likely to use the telemedicine rather than Non-Hispanic White. Conclusion: Health equity is attained when all demographic groups enjoy uniform access to healthcare services, but disparities emerge when there are discernible variations in access to treatment. Considering this study's findings, it becomes evident that the distinctions in poverty rates, median income levels, and healthcare utilization patterns across racial and regional lines may serve as indicators of potential health equity concerns.

Mir125b-1 is Not Imprinted in Human Brain and Shows Developmental Expression Changes in Mouse Brain.

Genomic imprinting is a predominantly brain and placenta-specific epigenetic process that contributes to parent-of-origin-specific gene expression. While microRNAs are highly expressed in the brain, their imprinting status in this tissue remains poorly studied. Previous research demonstrated that Mir125b-2 is imprinted in the human brain and regulates hippocampal circuits and functions in mice. However, the imprinting status of another isoform of miR125b, Mir125b-1, in the human brain, as well as its spatiotemporal expression patterns in mice, have not been elucidated. Here, we show MIR125B1 is not imprinted in the human brain. Moreover, miR-125b-1 was highly expressed in the brains of mice. Furthermore, miR-125b-1 was down-regulated during brain development in mice. Specifically, miR-125b-1 displayed preferential expression in the olfactory bulb, thalamus, and hypothalamus of the mouse brain. Notably, miR-125b-1 was enriched in GABAergic neurons, particularly somatostatin-expressing GABAergic neurons, compared with glutamatergic neurons. Taken together, our findings provide the imprinting status and comprehensive spatiotemporal expression profiling of Mir125b-1 in the brain.

Validating Prediction Tools for Autoimmune Encephalitis in Adult Taiwanese Patients: A Retrospective Study.

Autoimmune encephalitis (AE) is a neurological emergency. We aimed to analyze the application and effectiveness of the currently available prediction tools for AE patients in Taiwan. We retrospectively collected 27 AE patients between January 2008 and December 2019. Antibody Prevalence in Epilepsy (APE) score, Response to Immunotherapy in Epilepsy (RITE) score, and anti-NMDAR Encephalitis One Year Functional Status (NEOS) score were applied to validate their usability. Based on the defined cutoff values, the sensitivity and specificity of each score were calculated. A receiver operating characteristic (ROC) curve and the area under the curve (AUC) were generated for each scoring system. The AUC value of APE was 0.571. The AUC value of RITE was 0.550. The AUC values for the NEOS score at discharge and long-term follow-up were 0.645 and 0.796, respectively. The performance of APE and RITE scores was suboptimal in the Taiwanese cohort, probably due to the limitations of the small sample size and single ethnicity. On the other hand, the NEOS score performed better on long-term follow-up than at discharge.

The Genetics of Primary Familial Brain Calcification: A Literature Review.

Primary familial brain calcification (PFBC), also known as Fahr's disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. Other brain regions, such as the thalamus, cerebellum, and subcortical white matter, can also be affected. Among the diverse clinical phenotypes, the most common manifestations are movement disorders, cognitive deficits, and psychiatric disturbances. Although patients with PFBC always exhibit brain calcification, nearly one-third of cases remain clinically asymptomatic. Due to advances in the genetics of PFBC, the diagnostic criteria of PFBC may need to be modified. Hitherto, seven genes have been associated with PFBC, including four dominant inherited genes (SLC20A2, PDGFRB, PDGFB, and XPR1) and three recessive inherited genes (MYORG, JAM2, and CMPK2). Nevertheless, around 50% of patients with PFBC do not have pathogenic variants in these genes, and further PFBC-associated genes are waiting to be identified. The function of currently known genes suggests that PFBC could be caused by the dysfunction of the neurovascular unit, the dysregulation of phosphate homeostasis, or mitochondrial dysfunction. An improved understanding of the underlying pathogenic mechanisms for PFBC may facilitate the development of novel therapies.

Long-term survival and renal outcomes of thrombotic microangiopathy in pregnancy: A retrospective cohort study.

OBJECTIVE: Thrombotic microangiopathy (TMA) in pregnancy can rapidly progress, leading to severe morbidities. This study aimed to compare baseline demographics and clinical outcomes between pregnant women with and without TMA. METHODS: Using the National Health Insurance Research Database, 207 patients with pregnancy-related TMA from January 1, 2006 to December 31, 2015 were enrolled. Their data were compared with a 1:4 propensity score-matched cohort of 828 pregnant women without TMA to evaluate mortality and end-stage renal disease (ESRD) risks. Cox proportional hazards models were used to estimate the adjusted hazard ratio and 95% confidence intervals. RESULTS: A total of 1035 participants were included. The risks of mortality and ESRD were 4.46 and 5.97 times higher for the TMA cohort, respectively. Subgroup analysis revealed higher mortality and ESRD risks in patients with TMA aged >40 years with a history of hypertension, stroke, cancer, concomitant stroke, malignant hypertension, or gastroenterocolitis than in the matched cohort. CONCLUSION: Pregnant patients with TMA, especially those older and with comorbidities and organ involvement, faced increased mortality and ESRD risks. Physicians should collaborate with obstetricians throughout the prenatal and postpartum periods for these patients.

Colorectal Cancer Risk Perceptions Among Black Men in Florida.

PURPOSE: We examined colorectal cancer (CRC) risk perceptions among Black men in relation to socio-demographic characteristics, disease prevention factors, and personal/family history of CRC. METHODS: A self-administered cross-sectional survey was conducted in five major cities in Florida between April 2008 and October 2009. Descriptive statistics and multivariable logistic regression were performed. RESULTS: Among 331 eligible men, we found a higher proportion of CRC risk perceptions were exhibited among those aged ≥ 60 years (70.5%) and American nativity (59.1%). Multivariable analyses found men aged ≥ 60 had three times greater odds of having higher CRC risk perceptions compared to those ≤ 49 years (95% CI = 1.51-9.19). The odds of higher CRC risk perception for obese participants were more than four times (95% CI = 1.66-10.00) and overweight were more than twice the odds (95% CI = 1.03-6.31) as compared to healthy weight/underweight participants. Men using the Internet to search for health information also had greater odds of having higher CRC risk perceptions (95% CI = 1.02-4.00). Finally, men with a personal/family history of CRC were ninefold more likely to have higher CRC risk perceptions (95% CI = 2.02-41.79). CONCLUSION: Higher CRC risk perceptions were associated with older age, being obese/overweight, using the Internet as a health information source, and having a personal/family history of CRC. Culturally resonate health promotion interventions are sorely needed to elevate CRC risk perceptions for increasing intention to screen among Black men.

Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review.

Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment over time. In this article, we present three patients with EIDEE who experienced neonatal-onset seizures that developed into intractable seizures during infancy. Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p.Glu209Lys variant of the PACS2 gene. We conducted a literature review and found 29 cases to characterize the seizure patterns, neuroimaging features, the usage of anticonvulsants, and the clinical neurodevelopmental outcomes of PACS2-related EIDEE. The seizures were characterized by brief, recurring tonic seizures in the upper limbs, sometimes accompanied by autonomic features. Neuroimaging abnormalities were observed in the posterior fossa region, including mega cisterna magna, cerebellar dysplasia, and vermian hypoplasia. The long-term prognosis ranges from low-average intelligence to severe developmental retardation, emphasizing the importance of early recognition and accurate diagnosis by pediatric neurologists to provide personalized patient management.

The relationship of chronic disease conditions to mental and physical health among cancer survivors.

PURPOSE: This study examined the relationship between the presence of chronic disease conditions and mental and physical health among cancer survivors in the United States. METHODS: We conducted a cross-sectional analysis utilizing survey data from the 2016-2017 Behavioral Risk Factor Surveillance System (BRFSS) on 65,673 eligible cancer survivors. The primary outcomes of interest were self-rated metal/physical health in the past 30 days. Descriptive statistics and multivariate logistic regression were used to examine the mentioned association. RESULTS: 15.3% and 24.8% of survivors reported having several days of poor mental and physical health (14-30 days compared to 0-13 days), and 42.4% of survivors reported having one to two chronic diseases. In multivariate analysis, survivors with one to two chronic diseases were more likely to report several days of poor mental (OR, 2.74; 95% CI, 2.22-3.38) and physical (OR, 1.95; 95% CI, 1.72-2.22) health. Survivors with 3+ chronic diseases had markedly higher odds of having several days of poor mental (OR, 6.41; 95% CI, 5.19-7.91) and physical health (OR, 4.71; 95% CI, 4.16-5.34). Among survivors with at least one chronic disease, older age, insured, and more perceived social/emotional support were negatively associated with mental health (p value <0.05). Similarly, older age was related to fewer days of poor physical health (p value <0.05) regardless of chronic disease conditions. CONCLUSION: Having chronic diseases was associated with more days of poor mental and physical health among cancer survivors. Integrated, extensive care should include mental/physical health components and chronic disease management in cancer survivorship care.