Atomically Precise Platinum Nanoclusters: History and Recent Advances in Synthesis, Structure, and Properties.

Platinum is a cornerstone catalyst for various chemical and electrochemical transformations. Atomically precise platinum nanoclusters, located at the transition stage between smaller platinum-ligand coordination molecules (<∼1 nm) and larger platinum colloidal nanoparticles (>∼3 nm), can combine the advantages of both homogeneous and heterogeneous catalysts, serving as model systems for understanding catalytic processes. However, compared to significant advances in coinage metal nanoclusters, atomically precise platinum nanoclusters remain largely unexplored.

Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.

Importance: Cystic fibrosis is one of the most commonly diagnosed autosomal recessive disorders in the US. It is estimated that more than 10 million individuals are heterozygous for a pathogenic CFTR gene variant in the US (heterozygotes). The phenotypic risk of these heterozygotes is not well defined, particularly among populations of predominantly non-European genetic ancestry.

Hormone Therapy Usage Is Associated With Adverse Cardiovascular Events in Prostate Cancer Patients of the All of Us Research Program Cohort.

Background: Hormone therapy (HT) has greatly improved overall survival for prostate cancer patients, but may also influence cardiovascular health in an already high-risk population.

Methods: This retrospective cohort study examined participants in the All of Us Research Program with prostate cancer, had no prior history of adverse cardiovascular events, and were either treated or not treated with HT. HT was defined as GnRH agonists, GnRH antagonists, abiraterone, androgen antagonists, or androgen receptor pathway inhibitors.

Synthesis of a Single PbSe Magic-Sized Cluster: Insights into Reaction Kinetics, Atomic Structure, and Optical Properties.

PbSe magic-sized clusters (MSCs), characterized by their homogeneous sizes and sharp absorption features, represent an important class of nanomaterials for precise structure-property correlation. However, their synthesis is complicated by the formation of mixtures of MSCs. Here, we report the facile synthesis of a single PbSe MSC with an absorption peak at 625 nm (PbSe-625 MSC).

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

Background: Identifying rare disease (RD) patients in electronic health records (EHR) is challenging, as more than 10,000 rare diseases are not typically captured by clinical coding systems. This limits the assessment of clinical outcomes for RD patients. This study introduces a semiautomated approach to map RDs to appropriate codes, that is applicable across various EHR systems.

Transformative Synthesis of a Single-Sized PbSe Nanocluster via Cation Exchange.

Achieving atomic-level control in IV-VI semiconductor nanomaterials remains an important challenge. Here, we report the synthesis of an ultrasmall, single-sized PbSe nanocluster via cation exchange of a CuSe template cluster with an atomically defined lead(II) 4--butylbenzoate compound. The resulting PbSe cluster exhibits a sharp and reproducible excitonic absorption peak at 546 nm (linewidth, 61 nm or 0.

From Magic Size to Atomic Precision: Facile Synthesis of a CdTe Semiconductor Nanocluster.

Facile synthesis of atomically precise semiconductor nanoclusters remains an important challenge, especially for those with heavier chalcogens. Combining coordination and colloidal methods, we developed a simple approach for synthesizing an atomically precise CdTe nanocluster with high purity and stability. Specifically, a precise cadmium-thiolate compound, [Cd(SR)], was reacted with a facile phosphine telluride (TePR) precursor to produce a CdTe magic-sized cluster with a distinct absorption peak at 377 nm and a narrow linewidth of 20 nm.

PheWAS analysis on large-scale biobank data with PheTK.

Summary: With the rapid growth of genetic data linked to electronic health record (EHR) data in huge cohorts, large-scale phenome-wide association study (PheWAS) have become powerful discovery tools in biomedical research. PheWAS is an analysis method to study phenotype associations utilizing longitudinal EHR data. Previous PheWAS packages were developed mostly with smaller datasets and with earlier PheWAS approaches.

Long-telomeropathy is associated with tumor predisposition syndrome.

Telomeres protect chromosomal integrity, and telomere length (TL) is influenced by environmental and genetic factors. While short-telomeres are linked to rare telomeropathies, this study explored the hypothesis that a "long-telomeropathy" is associated with a cancer-predisposing syndrome. Using genomic and health data from 113,861 individuals, a trans-ancestry polygenic risk score for TL (PRS ) was developed.

Replicating the Association of Variants in and with Obesity in Diverse Populations.

In a recent study by Zhao et al., rare protein-truncating variants (PTVs) in the BSN and APBA1 genes showed effects on obesity that exceeded those of well-known genes such as MC4R in a UK cohort. In this study, we leveraged the All of Us Research Program, to investigate the association of predicted LoF (pLoF) PTVs in BSN and APBA1 with body mass index (BMI) across a population of diverse ancestry.

PheWAS analysis on large-scale biobank data with PheTK.

Summary: With the rapid growth of genetic data linked to electronic health record data in huge cohorts, large-scale phenome-wide association study (PheWAS), have become powerful discovery tools in biomedical research. PheWAS is an analysis method to study phenotype associations utilizing longitudinal electronic health record (EHR) data. Previous PheWAS packages were developed mostly in the days of smaller biobanks and with earlier PheWAS approaches.

A test of automated use of electronic health records to aid in diagnosis of genetic disease.

Purpose: Automated use of electronic health records may aid in decreasing the diagnostic delay for rare diseases. The phenotype risk score (PheRS) is a weighted aggregate of syndromically related phenotypes that measures the similarity between an individual's conditions and features of a disease. For some diseases, there are individuals without a diagnosis of that disease who have scores similar to diagnosed patients.

Genetic and clinical determinants of telomere length.

Many epidemiologic studies have identified important relationships between leukocyte telomere length (LTL) with genetics and health. Most of these studies have been significantly limited in scope by focusing predominantly on individual diseases or restricted to GWAS analysis. Using two large patient populations derived from Vanderbilt University and Marshfield Clinic biobanks linked to genomic and phenomic data from medical records, we investigated the inter-relationship between LTL, genomics, and human health.

Mapping the reaction zones for CdTe magic-sized clusters and their emission properties.

CdTe magic-sized clusters (MSCs) are promising building blocks for semiconductor devices because of their single size, consistent properties, and reproducible synthesis. However, the synthetic conditions for CdTe MSCs vary significantly in different reports, which hinders the general understanding of their formation mechanisms. Here, we employed Cd(oleate), trioctylphosphine telluride (TOPTe), and oleylamine, which are commonly used for larger quantum dot (QD) synthesis, as standard reaction precursors, and systematically investigated the effects of solvent, phosphine amount, oleylamine amount, Cd : Te ratio, and temperature on the evolution of MSCs with time.

Mass Spectrometry of Au(4-butylbenzenethiolate) Nanoclusters Using Superconducting Tunnel Junction Cryodetection Reveals Distinct Metastable Fragmentation.

Cryodetection mass spectrometry (MS) was used to study the Au(TBBT) (TBBT = 4-butylbenzenethiolate) catenane nanocluster. The matrix-assisted laser desorption ionization (MALDI) process generates distinct fragments that can be arranged into two distinct regimes: (i) in-source fragmentation, which occurs rapidly in a relatively short (<170 ns) time frame, and (ii) metastable fragmentation, which occurs postacceleration during a time-of-flight (TOF) mass analysis over a longer time frame (>170 ns-250 μs). Using MALDI-TOF MS with superconducting tunnel junction (STJ) cryodetection, distinct metastable nanocluster fragments were resolved at lower energies deposited into the detector.

Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.

Purpose: Limited studies have been conducted to evaluate pathogenetic mutations in breast cancer predisposition genes among Chinese women. To fully characterize germline mutations of these genes in this population, we used the whole-exome sequencing data in a population-based case-control study conducted in Shanghai, China.

Methods: We evaluated exonic, splicing, and copy number variants in 11 established and 14 candidate breast cancer predisposition genes in 831 invasive breast cancer cases and 839 controls.

Controlling magnetism of Au(TBBT) nanoclusters at single electron level and implication for nonmetal to metal transition.

The transition from the discrete, excitonic state to the continuous, metallic state in thiolate-protected gold nanoclusters is of fundamental interest and has attracted significant efforts in recent research. Compared with optical and electronic transition behavior, the transition in magnetism from the atomic gold paramagnetism (Au 6s) to the band behavior is less studied. In this work, the magnetic properties of 1.

Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.

The missing heritability of breast cancer could be partially attributed to rare variants (MAF < 0.5%). To identify breast cancer-associated rare coding variants, we conducted whole-exome sequencing (~50×) in genomic DNA samples obtained from 831 breast cancer cases and 839 controls of Chinese females.