Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.

Purpose: Fanconi anemia (FA) is a bone marrow failure and cancer predisposition syndrome caused primarily by biallelic pathogenic variants in 1 of 22 genes involved in DNA interstrand cross-link repair. An enduring question concerns cancer risk of those with a single pathogenic FA gene variant. To investigate all FA genes, this study utilized the DiscovEHR cohort of 170,503 individuals with exome sequencing and electronic health data.

Inherited bone marrow failure syndromes: a review of current practices and potential future research directions.

Purpose Of Review: Recent advances in diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have significantly improved disease understanding and patient outcomes. Still, IBMFS present clinical challenges that require further progress. This review aims to provide an overview of the current state of diagnosis and treatment modalities of the major IBMFS seen in paediatrics and present areas of prioritization for future research.

Starting and Sustaining an Extracorporeal Membrane Oxygenation Program.

The use of extracorporeal membrane oxygenation (ECMO) is growing rapidly in all patient populations, especially adults for both acute lung or heart failure. ECMO is a complex, high risk, resource-intense, expensive modality that requires appropriate planning, training, and management for successful outcomes. This article provides an optimal approach and the basic framework for initiating a new ECMO program, which can be tailored to meet local needs.

Quantitative Mammographic Density Measurements and Molecular Subtypes in Chinese Women With Breast Cancer.

Background: Studies investigating associations between mammographic density (MD) and breast cancer subtypes have generated mixed results. We previously showed that having extremely dense breasts was associated with the human epidermal growth factor receptor-2 (HER2)-enriched subtype in Chinese breast cancer patients.

Methods: In this study, we reevaluated the MD-subtype association in 1549 Chinese breast cancer patients, using VolparaDensity software to obtain quantitative MD measures.

Impact of breast cancer risk factors on clinically relevant prognostic biomarkers for primary breast cancer.

Purpose: In addition to impacting incidence, risk factors for breast cancer may also influence recurrence and survival from the disease. However, it is unclear how these factors affect combinatorial biomarkers for aiding treatment decision-making in breast cancer.

Methods: Patients were 8179 women with histologically confirmed invasive breast cancer, diagnosed and treated in a large cancer hospital in Beijing, China.

Protein-loaded soluble and nanoparticulate formulations of ionic polyphosphazenes and their interactions on molecular and cellular levels.

Nanoparticulate and water-soluble formulations of ionic polyphosphazenes and protein cargo - lysozyme (LYZ) were prepared by their self-assembly in aqueous solutions at near physiological pH (pH 7.4) in the presence and absence of an ionic cross-linker - spermine tetrahydrochloride. Efficiency of LYZ encapsulation, physico-chemical characteristics of formulations, and the effect of reaction parameters were investigated using asymmetric flow field flow fractionation (AF4) and dynamic light scattering (DLS) methods.

The relationship between terminal duct lobular unit features and mammographic density among Chinese breast cancer patients.

Extensive mammographic density (MD), a well-established breast cancer risk factor, is a radiological representation of stromal and epithelial breast tissue content. In studies conducted predominantly among Caucasian women, histologic measures of reduced terminal duct lobular unit (TDLU) involution have been correlated with extensive MD, but independently associated with breast cancer risk. We therefore examined associations between TDLU measures and MD among Chinese women, a low-risk population but with high prevalence of dense breasts.

Age-related terminal duct lobular unit involution in benign tissues from Chinese breast cancer patients with luminal and triple-negative tumors.

Background: Terminal duct lobular unit (TDLU) involution is a physiological process of breast tissue aging characterized by a reduction in the epithelial component. In studies of women with benign breast disease, researchers have found that age-matched women with lower levels of TDLU involution are at increased risk of developing breast cancer. We previously showed that breast cancer cases with core basal phenotype (CBP; estrogen receptor negative [ER], progesterone receptor-negative [PR], human epidermal growth factor receptor 2-negative [HER2], cytokeratins (CK 5 or CK5/6)-positive [CK5/6] and/or epidermal growth factor receptor-positive [EGFR]) tumors had significantly reduced TDLU involution compared with cases with luminal A (ER and/or PR, HER2, CK5/6, EGFR) tumors from a population-based case-control study in Poland.

100 robotic-assisted laparoscopic gastric bypasses at a community hospital.

Laparoscopic Roux-en-Y gastric bypass (LGB) is one of the most popular surgeries for morbid obesity. Robotic use is also on the rise. Data concerning outcomes is limited, hence the need for more information.