Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.

Aortic dissection or rupture is a major cause of mortality in vascular Ehlers-Danlos Syndrome (vEDS), a connective tissue disorder caused by heterozygous mutations in the COL3A1 gene. C57BL6/J (BL6) mice carrying the Col3a1 G938D/+ mutation recapitulate the vEDS vascular phenotype and die suddenly of aortic rupture/dissection. However, 129S6/SvEvTac (129) mice expressing the same Col3a1 G938D/+ mutation show near-complete life-long protection from vascular rupture.

Nanocarrier imaging at single-cell resolution across entire mouse bodies with deep learning.

Efficient and accurate nanocarrier development for targeted drug delivery is hindered by a lack of methods to analyze its cell-level biodistribution across whole organisms. Here we present Single Cell Precision Nanocarrier Identification (SCP-Nano), an integrated experimental and deep learning pipeline to comprehensively quantify the targeting of nanocarriers throughout the whole mouse body at single-cell resolution. SCP-Nano reveals the tissue distribution patterns of lipid nanoparticles (LNPs) after different injection routes at doses as low as 0.

Laser-Induced Metal-Organic Framework-Derived Flexible Electrodes for Electrochemical Sensing.

The successful development of a metal-organic framework (MOF)-derived Co/CoO/C core-shell composite integrated into laser-induced graphitic (LIG) carbon electrodes for electrochemical sensing is reported. The sensors are fabricated via a direct laser scribing technique using a UV laser (355 nm wavelength) to induce the photothermolysis of rationally selected ZIF-67 into the LIG matrix. Electrochemical characterization reveals that the incorporation of the laser-scribed ZIF-67-derived composite on the electrode surface reduces the impedance more than 100 times compared with bare LIG sensors.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Maternity Care Informed Consent Practices and Perspectives: A Qualitative Study at a Tertiary Maternity Unit.

Background: Although consent has long been accepted as necessary in maternity care, the concept of informed consent for planned vaginal birth has polarised maternity politics. The publication of the NSW Consent Manual outlines new standards of informed consent, signalling the need for examination of current maternity consent practices.

Aims: To examine informed consent and disclosure of material risks in birth in a prospective qualitative study of midwives and obstetricians.