Targeting the transferrin receptor to transport antisense oligonucleotides across the mammalian blood-brain barrier.

Antisense oligonucleotides (ASOs) are promising therapeutics for treating various neurological disorders. However, ASOs are unable to readily cross the mammalian blood-brain barrier (BBB) and therefore need to be delivered intrathecally to the central nervous system (CNS). Here, we engineered a human transferrin receptor 1 (TfR1) binding molecule, the oligonucleotide transport vehicle (OTV), to transport a tool ASO across the BBB in human TfR knockin (TfR KI) mice and nonhuman primates.

Limb development genes underlie variation in human fingerprint patterns.

Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized "pattern-block" correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice.

Impact of Race and Health Insurance Status on Response to Neoadjuvant Chemotherapy for Breast Cancer Patients.

We evaluated how race, insurance status, and other sociodemographic, tumor, and treatment variables influenced the response to neoadjuvant chemotherapy (NAC) in breast cancer. We performed an IRB-approved retrospective review of 298 breast cancer patients treated with NAC from 2006-2018 at our institution. Univariable and multivariable binary logistic regression analyses were performed to estimate the effects of race, insurance status, and other variables on outcomes.

Machine Learning-Guided Prediction of Central Anterior Chamber Depth Using Slit Lamp Images from a Portable Smartphone Device.

There is currently no objective portable screening modality for narrow angles in the community. In this prospective, single-centre image validation study, we used machine learning on slit lamp images taken with a portable smartphone device (MIDAS) to predict the central anterior chamber depth (ACD) of phakic patients with undilated pupils. Patients 60 years or older with no history of laser or intraocular surgery were recruited.

Comparison of Genome-Wide Association Scans for Quantitative and Observational Measures of Human Hair Curvature.

Previous genetic studies on hair morphology focused on the overall morphology of the hair using data collected by self-report or researcher observation. Here, we present the first genome-wide association study (GWAS) of a micro-level quantitative measure of hair curvature. We compare these results to GWAS results obtained using a macro-level classification of observable hair curvature performed in the same sample of twins and siblings of European descent.

The Effect of Patient Education and Telemedicine Reminders on Adherence to Eye Drops for Glaucoma.

Purpose: To determine the improvement in patient adherence to topical ocular hypotensive therapy by introducing a personalized illustrated medication reference chart and telereminder.

Design: Prospective randomized controlled clinical trial.

Participants: Fifty-nine patients with glaucoma who were using at least 3 or more eye drops were recruited from the ophthalmology clinic at the National University Hospital of Singapore.

Surge capacity of intensive care units in case of acute increase in demand caused by COVID-19 in Australia.

Objectives: To assess the capacity of intensive care units (ICUs) in Australia to respond to the expected increase in demand associated with COVID-19.

Design: Analysis of Australian and New Zealand Intensive Care Society (ANZICS) registry data, supplemented by an ICU surge capability survey and veterinary facilities survey (both March 2020).

Settings: All Australian ICUs and veterinary facilities.

Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity.

Oscillatory activity is crucial for information processing in the brain, and has a long history as a biomarker for psychopathology. Variation in oscillatory activity is highly heritable, but current understanding of specific genetic influences remains limited. We performed the largest genome-wide association study to date of oscillatory power during eyes-closed resting electroencephalogram (EEG) across a range of frequencies (delta 1-3.

Variation and Heritability in Hair Diameter and Curvature in an Australian Twin Sample.

Hair diameter and curvature are two characteristics of human scalp hair used in forensic contexts. While previous data show that subjective categorization of hair curvature is highly heritable, the heritability of objectively measured curvature and diameter, and variability of hair characteristics within each individual have not yet been studied. The present study measured hair diameter and curvature using an optical fiber diameter analyzer in a sample of 2,332 twins and siblings.

Attitudes toward waste to energy facilities and impacts on diversion in Ontario, Canada.

Despite progress in residential waste diversion, residual waste - that fraction which cannot be recycled or composted - must continue to be managed by municipalities. Zero waste and environmental groups worry that waste-to-energy (WtE) incinerators discourage diversion, while both incineration and landfill have been stigmatized in the popular consciousness such that WtE incinerators in particular are being cancelled more often than they are approved. We conducted a mail-back survey of 217 residents in Toronto, Durham and Peel, Ontario, to understand attitudes toward diversion, levels of support for WtE incineration and WtE landfill (landfill gas recovery) facilities, and predictors of facility support.

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap.

Assessment of nutrient intakes of picky-eating Chinese preschoolers using a modified food frequency questionnaire.

Background: Dietary assessment is crucial for monitoring nutritional status of young children. This study applied a modified Chinese food frequency questionnaire (FFQ) to assess nutrient intakes of young picky-eating Hong Kong children.

Methods: Nutrient intakes were obtained by FFQ and 3-day food record (3DFR) in 29 picky-eating children aged 44.

Ultrasound of the hands and feet for rheumatological disorders: influence on clinical diagnostic confidence and patient management.

Purpose: The purpose of the study was to quantify the impact that ultrasound (US) of the hands and feet has on the rheumatologists' diagnostic confidence and on patient management.

Materials And Methods: There were 62 consecutive referrals from two rheumatologists for US of the hands and/or feet for this prospective controlled observational study. Measurements of diagnostic confidence for both specific clinical findings as well as overall diagnosis using a Likert scale were made both before and after the US examination in each case.

Abdominal manifestations of extranodal lymphoma: spectrum of imaging findings.

Objective: The purpose of this article is to illustrate the spectrum of appearances of extranodal lymphoma in the abdomen using cross-sectional imaging techniques.

Conclusion: Extranodal lymphoma in the abdomen can mimic other neoplastic or inflammatory conditions. Although a definitive diagnosis is possible only with biopsy, it is important to consider extranodal lymphoma in the presence of certain imaging appearances in the appropriate clinical setting for the correct diagnosis, accurate staging, and optimal management.

Metastasis to the breast from an adenocarcinoma of the colon.

Metastases to the breast from extramammary malignancies are rare. We report a case of metastasis to the breast from a colonic adenocarcinoma in a 50-year-old man who was 6 years status after a right hemicolectomy for T3N1M1 adenocarcinoma of the ascending colon. Sonographic evaluation of the right breast lump showed a hypoechoic mass with slightly irregular margins, but there was no internal vascularity.

Postoperative evaluation of the knee after autologous chondrocyte implantation: what radiologists need to know.

Articular cartilage lesions occur commonly. Cartilage is relatively avascular and is unable to self-repair. A chondral lesion may become symptomatic.