Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.
Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.
Introduction: Despite significant advances in surgical techniques and patient outcomes, organ transplantation (OT) remains fraught with legal challenges and ethical dilemmas. This study aims to address the notable gap in literature on malpractice claims specifically related to OT, providing insights into litigation trends, outcomes, and implications for medical practice and patient care.
Methods: We retrospectively queried the Verdictsearch database from 1988 to 2023, and captured malpractice claims involving several organs.
Introduction: Despite advancements in Cytomegalovirus (CMV) management, its impact on graft function, mortality, and cardiovascular (CV) health of organ transplant recipients (OTR) remains a significant concern. We investigated the association between CMV infection and CV events (CVE) in organ (other than heart) transplant recipients.
Methods: We conducted a comprehensive literature search in PubMed and EMBASE, including studies that reported on CMV infection or disease and post-transplantation CVE.
The present study examined distinctions between child (n = 30) and adult (n = 212) sexual homicide offenders (SHOs) in Australia and New Zealand, contributing to the limited international research on the subject. Data, primarily sourced from judges' sentencing comments on AustLII and New Zealand Legal Information Institute, revealed significant differences. Child SHOs displayed elevated rates of pedophilia, sexual deviance, and adverse childhood experiences, including sexual abuse.
View Article and Find Full Text PDFThe gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers.
View Article and Find Full Text PDFAntimicrob Steward Healthc Epidemiol
April 2024
A pharmacist-driven protocol for methicillin-resistant nares screening and empiric vancomycin discontinuation was instituted in a community healthcare system utilizing a tele-antimicrobial stewardship program to reduce inappropriate use of vancomycin. The protocol and associated intervention resulted in a significant decrease in both vancomycin utilization and the rate of acute kidney injury.
View Article and Find Full Text PDFTroponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast () and TnI-slow (), are predominantly expressed in fast- and slow-twitch myofibers, respectively. variants are a rare cause of arthrogryposis, whereas variants have not been conclusively established to cause skeletal myopathy.
View Article and Find Full Text PDFObjective: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their integration into practice.
Methods: In total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research-led massively parallel sequencing: neuromuscular disorder gene panel, exome, genome, and/or RNA sequencing to identify causal variants.
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene.
View Article and Find Full Text PDF•Ovarian carcinosarcoma is a rare ovarian cancer histology that has limited treatment options.•In this study, we present an unusual association between carcinosarcoma and a STIC lesion.•In select patients with carcinosarcoma, PARP inhibition may provide clinical benefit.
View Article and Find Full Text PDFTo evaluate the relationship between demographics, dental beliefs and practices, fatalism, oral health self-efficacy, and oral health fatalism (OHF) among parent (guardian, caregivers). English-speaking parents of children presenting for dental care at a hospital dental clinic, a dental surgery center, and two private practices answered a 33-item questionnaire regarding demographics, general fatalistic views, and dental beliefs, practices, and history. Participants rated their agreement with the OHF statement: "Most children eventually develop dental cavities.
View Article and Find Full Text PDFPurpose: To review the literature exploring endometrial cancer (EC) risk among surgical candidates with germline pathogenic variants (PVs) to guide decisions around risk-reducing (rr) hysterectomy in this population.
Design: A comprehensive review was conducted of the current literature that influences clinical practice and informs expert consensus. We present our understanding of EC risk among PV carriers, the risk-modifying factors specific to this patient population, and the available research technology that may guide clinical practice in the future.
There are currently no approved vaccines against the opportunistic pathogen . Among vaccine targets, the lipopolysaccharide (LPS) O antigen of is the most immunodominant protective candidate. There are 20 different O antigens composed of different repeat sugar structures conferring serogroup specificity, and 10 are found most frequently in infection.
View Article and Find Full Text PDFIntroduction: To analyze healthcare resource utilization (HRU) and healthcare costs in men with metastatic castration-resistant prostate cancer (mCRPC) in the US Medicare population.
Methods: A published claims-based algorithm was used to identify men with mCRPC in the fee-for-service Medicare population between January 1, 2014, and December 31, 2019. Unadjusted all-cause HRU (days) and healthcare costs paid by Medicare (medical and pharmacy) per patient per year (PPPY) are described for the periods before mCRPC diagnosis, after diagnosis, and from the start of first-line (1L), second-line (2L), and third-line (3L) therapy with mCRPC life-prolonging treatments to the start of subsequent therapy or end of follow-up/death.
There are currently no approved vaccines against the opportunistic pathogen . Among vaccine targets, the lipopolysaccharide (LPS) O antigen of is the most immunodominant protective candidate. There are twenty different O antigens composed of different repeat sugars structures conferring serogroup specificity, and ten are found most frequently in infection.
View Article and Find Full Text PDFTriazole antifungals (i.e., fluconazole, itraconazole, voriconazole, posaconazole, and isavuconazole) are commonly used in clinical practice to prevent or treat invasive fungal infections.
View Article and Find Full Text PDFThe grievance fueled violence paradigm encompasses various forms of targeted violence but has not yet been extended to the theoretical discussion of sexual violence. In this article, we argue that a wide range of sexual offenses can be usefully conceptualized as forms of grievance fueled violence. Indeed, our assertion that sexual violence is often grievance fueled is unoriginal.
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