In neurons, the axon and axon initial segment (AIS) are critical structures for action potential initiation and propagation. Their formation and function rely on tight compartmentalisation, a process where specific proteins are trafficked to and retained at distinct subcellular locations. One mechanism which regulates protein trafficking and association with lipid membranes is the modification of protein cysteine residues with the 16-carbon palmitic acid, known as S-acylation or palmitoylation.
View Article and Find Full Text PDFThe first measurement of the dependence of γγ→μ^{+}μ^{-} production on the multiplicity of neutrons emitted very close to the beam direction in ultraperipheral heavy ion collisions is reported. Data for lead-lead interactions at sqrt[s_{NN}]=5.02 TeV, with an integrated luminosity of approximately 1.
View Article and Find Full Text PDFGlioblastoma (GBM) is the most aggressive malignant glioma. Therapeutic targeting of GBM is made more difficult due to its heterogeneity, resistance to treatment, and diffuse infiltration into the brain parenchyma. Better understanding of the tumor microenvironment should aid in finding more effective management of GBM.
View Article and Find Full Text PDFAims: To examine the rate of lower urinary tract complications (LUTC) and urinary diversion (UD) after artificial urinary sphincter (AUS) explantation with the acute reconstruction of AUS cuff erosion defects.
Methods: We performed a retrospective study of patients who underwent in-situ urethroplasty (ISU) for AUS cuff erosion from June 2007 to December 2020. Outcomes included LUTC (urethral stricture, diverticulum, fistula), AUS reimplantation, and UD.
The CMS experiment at the LHC has measured the differential cross sections of Z bosons decaying to pairs of leptons, as functions of transverse momentum and rapidity, in lead-lead collisions at a nucleon-nucleon center-of-mass energy of 5.02 TeV. The measured Z boson elliptic azimuthal anisotropy coefficient is compatible with zero, showing that Z bosons do not experience significant final-state interactions in the medium produced in the collision.
View Article and Find Full Text PDFObjectives: To report our initial experience with the extra-tunical grafting (ETG) procedure. This procedure was recently introduced by UCSF investigators as a tunica-sparing technique for management of penile concavity deformities.
Methods: We retrospectively reviewed records of patients who underwent ETG at our tertiary-care referral center between 2017 - 2020.
Objectives: To examine association between post-prostatectomy incontinence (PPI) severity and weight changes before and after restoration of continence via artificial urinary sphincter (AUS).
Methods: Single surgeon, retrospective review of urologic prosthetic surgery (UPS) after radical prostatectomy (RP). A cohort of post-RP inflatable penile prosthesis (IPP) patients served as a surgical control.
Proc Natl Acad Sci U S A
September 2021
Drawing on past pandemics, scholars have suggested that the COVID-19 pandemic will bring about fertility decline. Evidence from actual birth data has so far been scarce. This brief report uses data on vital statistics from a selection of high-income countries, including the United States.
View Article and Find Full Text PDFInt J Environ Res Public Health
August 2021
Responding to identified needs for increased veterans' access to healthcare, in 2010 the United States Department of Veterans Affairs (VA) launched the Veteran Community Partnership (VCP) initiative to "foster seamless access to, and transitions among, the full continuum of non-institutional extended care and support services in VA and the community". This initiative represents an important effort by VA to promote collaboration with a broad range of community organizations as equal partners in the service of veteran needs. The purpose of the study is an initial assessment of the VCP program.
View Article and Find Full Text PDFObjectives: To analyze our institutional experience transitioning from overnight observation (OBS) to same day surgery (SDS) for artificial urinary sphincter (AUS) procedures. Prior research has questioned the need for OBS following AUS surgery.
Methods: We retrospectively reviewed AUS surgeries performed by a single surgeon at our tertiary academic medical center between 08/2013 and 01/2020.
Molecular chirality can be exploited as a sensitive reporter of the nature of intra- and interchromophore interactions in π-conjugated systems. In this report, we designed an intramolecular singlet fission (iSF)-based pentacene dimer with an axially chiral binaphthyl bridge (2,2'-(2,2'-dimethoxy-[1,1'-binaphthalene]-3,3'-diyl) -octyl-di-isopropyl silylethynyl dipentacene, ) to utilize its chiroptical response as a marker of iSF chromophore-bridge-chromophore (SFC-β-SFC) interactions. The axial chirality of the bridge enforces significant one-handed excitonic coupling of the pentacene monomer units; as such, exhibits significant chiroptical response in the ground and excited states.
View Article and Find Full Text PDFBackground: Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A). A second pair of mutually exclusive exons is reported in SCN8A only (18N and 18A).
View Article and Find Full Text PDFHuntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein. HTT is subject to multiple post-translational modifications (PTMs) that regulate its cellular function. Mutating specific PTM sites within mutant HTT (mHTT) in HD mouse models can modulate disease phenotypes, highlighting the key role of HTT PTMs in the pathogenesis of HD.
View Article and Find Full Text PDFBackground: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g.
View Article and Find Full Text PDFGeographically-dispersed teams have become the norm in clinical research collaborations. The Institutional Development Awards (IDeA) Program, first authorized by Congress in 1993 and managed by the National Institute of General Medical Sciences, has been developed for the purpose of broadening the geographic distribution of National Institutes of Health (NIH) funding for biomedical and behavioral research by enhancing the competitiveness for research funding of institutions located in states in which the aggregate success rate for grant applications to the NIH has historically been low. The IDeA States are composed of the Commonwealth of Puerto Rico and the following 23 states: Alaska, Arkansas, Delaware, Hawaii, Idaho, Kansas, Kentucky, Louisiana, Maine, Mississippi, Montana, Nebraska, Nevada, New Hampshire, New Mexico, North Dakota, Oklahoma, Rhode Island, South Carolina, South Dakota, Vermont, West Virginia, Wyoming.
View Article and Find Full Text PDFLoss-of-function variants in the gene SCN2A, which encodes the sodium channel Na1.2, are strongly associated with autism spectrum disorder and intellectual disability. An estimated 20%-30% of children with these variants also suffer from epilepsy, with altered neuronal activity originating in neocortex, a region where Na1.
View Article and Find Full Text PDFNeurodevelopmental neuropsychiatric disorders, such as autism spectrum disorder and schizophrenia, have strong genetic risk components, but the underlying mechanisms have proven difficult to decipher. Rare, high-risk variants may offer an opportunity to delineate the biological mechanisms responsible more clearly for more common idiopathic diseases. Indeed, different rare variants can cause the same behavioral phenotype, demonstrating genetic heterogeneity, while the same rare variant can cause different behavioral phenotypes, demonstrating variable expressivity.
View Article and Find Full Text PDFBackground: Stress is associated with adverse birth and postpartum health outcomes. Few studies have longitudinally explored racial differences in maternal stress in a birthing population in the United States during the ongoing COVID-19 pandemic.
Objective: This study aimed to do the following: (1) assess changes in reported stress before, during, and after initial emergency declarations (eg, stay-at-home orders) were in place due to the COVID-19 pandemic, and (2) assess Black-White differences in reported stress in a pregnant and postpartum population from Southwestern Pennsylvania.
Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart disease. The International Paediatric and Congenital Cardiac Code (IPCCC) is now utilized worldwide and has most recently become the paediatric and congenital cardiac component of the Eleventh Revision of the International Classification of Diseases (ICD-11).
View Article and Find Full Text PDFBackground: To identify genes associated with congenital diaphragmatic hernia (CDH) to help understand the etiology and inform prognosis.
Methods: We performed exome sequencing on fetuses with CDH and their parents to identify rare genetic variants likely to mediate risk. We reviewed prenatal characteristics and neonatal outcomes.
This International Consensus Classification and Nomenclature for the congenital bicuspid aortic valve condition recognizes 3 types of bicuspid valves: 1. The fused type (right-left cusp fusion, right-non-coronary cusp fusion and left-non-coronary cusp fusion phenotypes); 2. The 2-sinus type (latero-lateral and antero-posterior phenotypes); and 3.
View Article and Find Full Text PDFThis International evidence-based nomenclature and classification consensus on the congenital bicuspid aortic valve and its aortopathy recognizes 3 types of bicuspid aortic valve: 1. Fused type, with 3 phenotypes: right-left cusp fusion, right-non cusp fusion and left-non cusp fusion; 2. 2-sinus type with 2 phenotypes: Latero-lateral and antero-posterior; and 3.
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