Efficacy of two novel antifungal lipopeptides, AF and AF of bacillomycin D family in murine models of invasive candidiasis, cryptococcosis, and aspergillosis.

Invasive fungal diseases are an important public health concern due to an increase in the at-risk population and high mortality associated with these infections. Managing invasive fungal infections poses a significant challenge given the limited antifungal options and the emergence of resistance in key fungal pathogens. Through a comprehensive approach, we evaluated the in vitro antifungal activity and the in vivo efficacy of two novel lipopeptides, AF and AF in murine models of disseminated candidiasis, cryptococcosis, and aspergillosis.

Validation of the Lift-Off Screw Technique in Patients Undergoing Corrective Osteotomy for Malunited Distal Radius Fractures.

Purpose: The purpose of this study was to validate the clinical accuracy of the lift-off screw (LOS) technique for volar tilt correction (VTC) in patients undergoing corrective osteotomy for dorsally angulated distal radius fracture malunions.

Methods: We conducted a retrospective review of 23 patients with dorsally angulated distal radius fracture malunions treated with corrective osteotomy using the LOS technique. The LOS equation L = [tan(T) ∗ L + C]/[cos(⍬)] and standardized intraoperative fluoroscopic images were used to determine and compare the calculated and clinical VTC and final volar tilt.

Expanding Genetic Counselor Roles: A Model for Global Research Development.

Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs' evolving contributions to the literature, with the goal of facilitating worldwide professional development for GCs through scholarly activities.

Methods: Publications were cataloged by members of the Section of Genetic Counseling (Section), established at the Children's Hospital of Philadelphia and the University of Pennsylvania in 2014, including publication year, journal, impact factor, and author position.

User and Usability Testing of a Web-Based Genetics Education Tool for Parkinson Disease: Mixed Methods Study.

Background: Genetic testing is essential to identify research participants for clinical trials enrolling people with Parkinson disease (PD) carrying a variant in the glucocerebrosidase (GBA) or leucine-rich repeat kinase 2 (LRRK2) genes. The limited availability of professionals trained in neurogenetics or genetic counseling is a major barrier to increased testing. Telehealth solutions to increase access to genetics education can help address issues around counselor availability and offer options to patients and family members.

Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.

Observational studies in Parkinson's disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration in Neurological Diagnosis Initiative seeks to characterize molecular and clinical features of every PD patient at the University of Pennsylvania (UPenn). The objectives of this study are to determine the feasibility of genetic characterization in PD and assess clinical features by sex and GBA1/LRRK2 status on a clinic-wide scale.

Disparities in Genetic Testing for Neurologic Disorders.

Background And Objectives: Genetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system, but disparities in the utilization of genetic testing for neurologic conditions have not been studied. We tested the hypothesis that access to and results of genetic testing vary according to race, ethnicity, sex, socioeconomic status, and insurance status for adults with neurologic conditions.

HPV16 E6/E7-mediated regulation of PiwiL1 expression induces tumorigenesis in cervical cancer cells.

Purpose: PiwiL1 has been reported to be over-expressed in many cancers. However, the molecular mechanism by which these proteins contribute to tumorigenesis and their regulation in cancer cells is still unclear. We intend to understand the role of PiwiL1 in tumorigenesis and also its regulation in cervical cells.

Identity and Community: Erikson Reconsidered.

In this paper, I present a new reading of Erik Erikson's theory of epigenetic stages of development, with particular attention to the concept of identity. I show that Erikson's approach requires close attention to the role of the community in the formation of individual identity and to the importance of the stage of as an often overlooked component in understanding both identity and the whole Eriksonian life cycle.

Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia.

A 48-year-old man was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurologic workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and mitochondrial testing. An ataxia repeat expansion panel ultimately revealed the final diagnosis.

Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling.

Preimplantation genetic testing for monogenic conditions (PGT-M), formerly called preimplantation genetic diagnosis, is a specialized assisted reproduction technique that aims to reduce the risk of a pregnancy inheriting a monogenic condition. Despite calls to increase awareness and prepare neurologists for discussing PGT-M with patients and their families, no guidelines currently exist. When introducing PGT-M to those who may be interested in using it, there are major factors for discussion, including (1) genetic considerations (e.

Partial Scapholunate Interosseous Ligament Injuries: A Systematic Review of Treatment Options.

 This systematic review summarizes the existing evidence on treatment options and outcomes for partial scapholunate interosseous ligament (pSLIL) injuries.  A systematic electronic search of Medline, Embase, and CINAHL was performed from inception through to February 13, 2022. All primary research articles addressing the treatment of pSLIL tears were eligible for inclusion regardless of timing of surgery, surgical technique, or rehabilitation.

Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems.

Objective: A quality improvement initiative (QII) was conducted with five community-based health systems' oncology care centers (sites A-E). The QII aimed to increase referrals, genetic counseling (GC), and germline genetic testing (GT) for patients with ovarian cancer (OC) and triple-negative breast cancer (TNBC).

Methods: QII activities occurred at sites over several years, all concluding by December 2020.

Health disparities associated with access to disability evaluations for toddlers in Early Head Start.

Background: The aim of this investigation was to examine developmental, sociodemographic and familial factors associated with parent reported access to an evaluation in an Early Head Start sample. Children with developmental disabilities often require evaluations to access early interventions, which can improve their long-term outcomes.

Methods: This study (n = 191) examined how developmental, sociodemographic and parent factors at age 2 were associated with parent reporting the child being evaluated by age 3.

A Survey of Treatment Trends for Acute Quadriceps Tendon Ruptures Among North American Surgeons.

Background: To date, little clinical evidence exists to support a specific surgical technique or postoperative rehabilitation protocol for quadriceps tendon ruptures. With a lack of evidence-based superiority, assessment of clinical practices and surgeon preferences is pertinent.

Purpose: To describe the current surgical technique and rehabilitation preferences among members of the Canadian Orthopaedic Association and American Orthopaedic Society for Sports Medicine pertaining to acute quadriceps tendon rupture.

Mirror, Mirror: Freud and the Reversible Self-Object Dyad.

Freud is often negatively contrasted with object relations and relational theorists for holding to a metapsychology in which drives are understood as innate and predetermined in their development, are thought to follow the pleasure principle in a "hydraulic" manner, and are not seen as influenced by real objects. While that theory is certainly one dimension of Freud's thinking, it is paralleled by another, quite different model positing a "mirror" relation in which affectively charged reversible self-object dyads, as opposed to purely internal dynamics, are the constituent elements of mental life. This view, more compatible with theories placing greater emphasis on the constitutive role of self-object relations, may further the reconciliation of Freudian and object-relational theories.

COBRA: COde Blue Retrospective Audit in a metropolitan hospital.

Background: Inhospital cardiac arrest (IHCA) is an uncommon but challenging problem.

Aims: To investigate the management and outcomes of IHCA, and to investigate the effect of introducing a medical emergency team (MET) on IHCA prevalence.

Methods: Retrospective medical record review of 176 adult IHCA episodes at Box Hill Hospital, a university-affiliated public hospital in metropolitan Melbourne, from July 2012 to June 2017.

Impact of Genotype on Echinocandin Susceptibility in Candida auris and Response in a Murine Model of Infection.

Echinocandins are frontline antifungal agents in the management of invasive infections due to multidrug resistant Candida auris. The study aimed to evaluate echinocandin resistance in C. auris isolates of multicentric origin, identify the resistance mechanism, and analyze the pharmacodynamic response to caspofungin in a neutropenic mouse model of infection.

Connecting the Dots: Interplay of Pathogenic Mechanisms between COVID-19 Disease and Mucormycosis.

Coronavirus disease (COVID-19)-associated mucormycosis (CAM) is an emerging threat globally, especially in India. More than 40,000 CAM cases have been reported in India. The emergence of CAM cases in India has been attributed to environmental, host, and iatrogenic factors.

Is there an association between zinc and COVID-19-associated mucormycosis? Results of an experimental and clinical study.

Background: The enormous increase in COVID-19-associated mucormycosis (CAM) in India lacks an explanation. Zinc supplementation during COVID-19 management is speculated as a contributor to mucormycosis. We conducted an experimental and clinical study to explore the association of zinc and mucormycosis.

Transitioning to telegenetics in the COVID-19 era: Patient satisfaction with remote genetic counseling in adult neurology.

The COVID-19 pandemic rapidly changed genetic counseling services across the United States. At the University of Pennsylvania (UPenn), a large academic hospital in an urban setting, nearly all genetic counseling (GC) visits for adult-onset disorders within the Department of Neurology were conducted via secure videoconferencing (telegenetics) or telephone between March and December 2020. Although telemedicine services have been steadily emerging, many clinical programs, including the neurogenetics program at UPenn, had not built infrastructure or widely utilized these services prior to the pandemic.