Mutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.

Mortality Trends and Causes of Death in Myotonic Dystrophy Type 1 Patients From the UK Clinical Practice Research Datalink.

Introduction/aim: Patients with myotonic dystrophy type1 (DM1) have reduced lifespan. This study aimed to quantify mortality risks, and evaluate causes and time trends in DM1.

Methods: We identified 1021 DM1 patients and 15,104 matched DM1-free controls from the United Kingdom (UK) Clinical Practice Research Datalink.

Characterization of mammographic markers of inflammatory breast cancer (IBC).

Purpose: Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer, as many physicians may not be aware of it in terms of symptoms and diagnosis. Mammography is the first choice in breast screenings and diagnosis. Because of a lack of expertise and imaging datasets, IBC portrayal and machine learning-based diagnosis systems have not yet been studied thoroughly.

Merkel Cell Carcinoma and Immunosuppression, UV Radiation, and Merkel Cell Polyomavirus.

Importance: Merkel cell carcinoma (MCC) is a rare but aggressive skin cancer. Quantifying the contribution of major potentially modifiable risk factors to the burden of MCC may inform prevention efforts.

Objective: To estimate the population attributable fraction of MCC cases in the US that were attributable to major immunosuppressing conditions (eg, HIV, solid organ transplant, chronic lymphocytic leukemia [CLL]), ambient UV radiation [UVR] exposure, and Merkel cell polyomavirus [MCPyV]).

Differences in Trends in Cancer Incidence Rates Among People with HIV during 2001-2019 By Race and Ethnicity and By Risk Group in the United States.

Background: Cancer risk among people with HIV (PWH) has declined over time as a result of antiretroviral therapy, but it is unclear whether all racial/ethnic groups and transmission risk groups have experienced equal declines.

Methods: We used data on PWH aged ≥20 years old from the HIV/AIDS Cancer Match Study during 2001-2019. We used Poisson regression to assess time trends in incidence rates for each cancer site by racial/ethnicity and risk group, adjusting for age, registry, and sex.

Prediction of breast cancer risk for adolescents and young adults with Hodgkin lymphoma.

Background: While female survivors of Hodgkin lymphoma (HL) have an increased risk of breast cancer (BC), no BC risk prediction model is available. We developed such models incorporating mean radiation dose to the breast or breast quadrant-specific radiation doses.

Methods: Relative risks and age-specific incidence for BC and competing events (mortality or other subsequent cancer) were estimated from 1194 Dutch five-year HL survivors, treated at ages 11-40 during 1965-2000.

Patterns and predictors of opioid dispensing among older cancer patients from 2008 to 2015.

Background: Understanding factors associated with opioid dispensing in cancer patients is important for developing tailored guidelines and ensuring equitable access to pain management. We examined patterns and predictors of opioid dispensing among older cancer patients from 2008 to 2015.

Methods: We analyzed data from the Surveillance, Epidemiology, and End Results (SEER) database linked to Medicare claims.

The burden of COVID-19 mortality among solid organ transplant recipients in the United States.

Solid organ transplant recipients (SOTRs) have a heightened risk of adverse coronavirus disease 2019 (COVID-19) outcomes because of immunosuppression and medical comorbidity. We quantified the burden of COVID-19 mortality in United States (US) SOTRs. A sample of deaths documented in the US solid organ transplant registry from June 2020 through December 2022 was linked to the National Death Index to identify COVID-19 deaths and weighted to represent all SOTR deaths during the study period.

Comparative analysis of two independent Myh6-Cre transgenic mouse lines.

We have previously shown that the promoter drives Cre expression in a subset of male germ line cells in three independent mouse lines, including two transgenic lines and one knock-in allele. In this study, we further compared the tissue-specificity of the two transgenic mouse lines, through examining the expression of tdTomato (tdTom) red fluorescence protein in multiple internal organs, including the heart, brain, liver, lung, pancreas and brown adipose tissue. Our results show that mainly activates tdTom reporter in the heart, whereas activates tdTom expression significantly in the heart, and in the cells of liver, pancreas and brain.

Retinal Connectomics: A Review.

The retina is an ideal model for understanding the fundamental rules for how neural networks are constructed. The compact neural networks of the retina perform all of the initial processing of visual information before transmission to higher visual centers in the brain. The field of retinal connectomics uses high-resolution electron microscopy datasets to map the intricate organization of these networks and further our understanding of how these computations are performed by revealing the fundamental topologies and allowable networks behind retinal computations.

IFNL4 genotype and other personal characteristics to predict response to 8-week sofosbuvir-based treatment for chronic hepatitis C.

Background: Shorter duration therapy for hepatitis C virus (HCV) infection might reduce treatment costs and increase the number of patients treated and cured. We determined factors associated with treatment response after an 8-week sofosbuvir-based therapy and developed a simple model to predict an individual's likelihood of treatment success.

Methods: Among 2907 patients who received ledipasvir/sofosbuvir for 8 weeks, we determined failure rates by demographic and clinical characteristics, and IFNL4-∆G/TT genotype.

Cure models, survival probabilities, and solid organ transplantation for patients with colorectal cancer.

A previous cancer diagnosis can preclude patients from consideration for solid organ transplantation. Statistical models may improve candidate selection. We fitted statistical cure models and estimated 5-year cancer-specific survival (5yCSS) for colorectal cancer patients in the United States using registry data.

Ambient ultraviolet A, ultraviolet B, and risk of melanoma in a nationwide United States cohort, 1984-2014.

Background: Ultraviolet radiation (UVR) exposure is the primary risk factor for melanoma, although the relationship is complex. Compared with radiation from UVB wavelengths, UVA makes up a majority of the surface solar UVR, penetrates the skin more deeply, is the principal range emitted by tanning beds, and is less filtered by sunscreens and window glass. Few studies have examined the relationship between ambient UVA and UVB and melanoma risk.

COVID-19 and long-term impact on symptoms and Health-Related Quality of Life in Costa Rica: the RESPIRA cohort study.

Background: Evidence continues to accumulate regarding the potential long-term health consequences of COVID-19 in the population. To distinguish between COVID-19-related symptoms and health limitations from those caused by other conditions, it is essential to compare cases with community controls using prospective data ensuring case-control status. The RESPIRA study addresses this need by investigating the lasting impact of COVID-19 on Health-related Quality of Life (HRQoL) and symptomatology in a population-based cohort in Costa Rica, thereby providing a robust framework for controlling HRQoL and symptoms.

Consensus practice recommendations for management of gastrointestinal dysfunction in Parkinson disease.

Background: Gastrointestinal (GI) dysfunction is a common non-motor feature of Parkinson disease (PD). GI symptoms may start years before the onset of motor symptoms and impair quality of life. Robust clinical trial data is lacking to guide screening, diagnosis and treatment of GI dysfunction in PD.

Mediation analysis using incomplete information from publicly available data sources.

Our work was motivated by the question whether, and to what extent, well-established risk factors mediate the racial disparity observed for colorectal cancer (CRC) incidence in the United States. Mediation analysis examines the relationships between an exposure, a mediator and an outcome. All available methods require access to a single complete data set with these three variables.

Temporal changes in mammographic breast density and breast cancer risk among women with benign breast disease.

Introduction: Benign breast disease (BBD) and high mammographic breast density (MBD) are prevalent and independent risk factors for invasive breast cancer. It has been suggested that temporal changes in MBD may impact future invasive breast cancer risk, but this has not been studied among women with BBD.

Methods: We undertook a nested case-control study within a cohort of 15,395 women with BBD in Kaiser Permanente Northwest (KPNW; 1970-2012, followed through mid-2015).