Publications by authors named "MR Davis"

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.

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  • Pathological tau isoforms, particularly hyperphosphorylated tau at serine 396, and tau oligomers were found in the retinas of patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD), indicating a potential link between tauopathy and retinal changes.
  • The study analyzed retinal cross-sections from 25 patients with MCI or AD and 16 cognitively normal controls, revealing a significant reduction in retinal ganglion cells (RGCs) and increased signs of cell distress in MCI and AD patients compared to controls.
  • Findings showed that higher amounts of pS396-tau in RGCs were strongly correlated with decreased RGC integrity and related to severity in cognitive decline, suggesting that retinal
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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.

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  • Oculopharyngodistal myopathy (OPDM) is a genetic muscle disease that causes drooping eyelids, trouble swallowing, and weakness in the arms and legs.
  • Recent research found repeating sequences in a gene called ABCD3 in people with OPDM from European backgrounds, while similar repeats were only discovered in certain Asian groups before.
  • These long repeats in the ABCD3 gene might play a role in the muscle problems seen in OPDM, suggesting a link between these repeats and the weakness that affects patients.
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  • * Researchers analyzed retinal samples from AD patients (both mild cognitive impairment and dementia) and matched controls, finding significant increases in various tau isoforms, particularly in advanced AD cases.
  • * Strong correlations were identified between specific retinal tau isoforms and brain pathology, indicating that changes in the retina could reflect the severity of cognitive decline and neurodegeneration in AD patients.
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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.

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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.

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  • The retina is being studied as a promising, noninvasive way to diagnose and track Alzheimer's disease (AD) because it shows similar pathological features to those found in the brain, like amyloid and tau protein abnormalities.
  • Research has found that structural and functional issues in the retina, including reduced blood flow and inflammation, correlate with the severity of AD symptoms in patients.
  • Advanced imaging technologies are now capable of detecting AD-related changes in the retina, which could help in early diagnosis and monitoring of the disease, but more studies are needed with larger, diverse groups to confirm these findings and improve screening methods.
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The 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.

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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.

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Troponin 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.

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Objective: 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.

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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.

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  • - This study investigates the presence of various pathological tau proteins in the retinas of individuals with early and advanced Alzheimer's disease (AD) and their connection to the severity of the disease.
  • - Researchers analyzed retinal and brain samples from 75 donors with conditions ranging from normal cognition to mild cognitive impairment (MCI) and AD, using advanced histopathology and digital profiling methods.
  • - The results showed significant increases in multiple tau isoforms in the retinas of AD and MCI patients compared to normal controls, suggesting a correlation between retinal changes and cognitive decline.
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•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.

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To 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.

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Purpose: 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.

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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.

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  • Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive neurological disorder linked to genetic mutations in a specific gene, which has shown significant variability in its genetic makeup.
  • A study screened 242 Australasian patients with neurological diseases to find correlations between these genetic expansions and the disorder, discovering known pathogenic expansions in 15.3% of the cases.
  • Additionally, researchers identified previously unknown genetic repeat motifs and suggested the use of enhanced sequencing techniques to better understand the complex patterns of these genetic expansions.
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Introduction: 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.

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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.

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Triazole antifungals (i.e., fluconazole, itraconazole, voriconazole, posaconazole, and isavuconazole) are commonly used in clinical practice to prevent or treat invasive fungal infections.

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The 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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