Publications by authors named "Hayes I"

Article Synopsis
  • Uranium ditelluride (UTe) is considered a top candidate for a -wave superconductor in bulk form, prompting detailed spectroscopic research.
  • Conductance measurements were taken through point-contact junctions at low temperatures (down to 250 mK) and high magnetic fields (up to 18 T), utilizing the Blonder-Tinkham-Klapwijk model for analysis.
  • The findings indicate a dominant -wave gap function with an amplitude of 0.26 ± 0.06 meV, supporting the idea of spin-triplet pairing in UTe's superconducting state.
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Background And Objectives: High-resolution magnetic resonance imaging (MRI) accuracy for staging preoperative rectal cancer varies across studies. We examined MRI accuracy for T- and N-staging of rectal cancer compared with final histopathology of the resected specimen in a large Australian cohort who did not receive neoadjuvant therapy or radiation.

Methods: Retrospective analysis of prospectively-collected clinical data from 153 rectal adenocarcinomas locally staged by high-resolution MRI between January 2012 and December 2019 that did not undergo chemoradiotherapy or radiation before surgery.

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Reentrant superconductivity is an uncommon phenomenon in which the destructive effects of magnetic field on superconductivity are mitigated, allowing a zero-resistance state to survive under conditions that would otherwise destroy it. Typically, the reentrant superconducting region derives from a zero-field parent superconducting phase. Here, we show that in UTe crystals extreme applied magnetic fields give rise to an unprecedented high-field superconductor that lacks a zero-field antecedent.

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Article Synopsis
  • Aotearoa/New Zealand's study involved analyzing hypertrophic cardiomyopathy (HCM) patients enrolled in a national registry, focusing on their genetic testing results by ethnicity.
  • Of the 336 patients, a significant disparity was found in genetic variant identification, with 40% having pathogenic variants, but lower rates among Māori and Pacific populations compared to Europeans.
  • Women were more likely to carry these variants and present with symptoms at a younger age, with variant-positive patients also experiencing higher instances of cardiac arrest or sudden death.
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Resonant ultrasound spectroscopy (RUS) is a powerful technique for measuring the full elastic tensor of a given material in a single experiment. Previously, this technique was practically limited to regularly shaped samples such as rectangular parallelepipeds, spheres, and cylinders [W. M.

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Background: Haploinsufficiency of the Lysine Methyltransferase 2C (KMT2C) gene results in the autosomal dominant disorder, Kleefstra syndrome 2. It is an extremely rare neurodevelopmental condition, with 14 previous reports describing varied clinical manifestations including dysmorphic features, delayed psychomotor development and delayed growth.

Methods: Here, we describe a female with global developmental delay, attention deficit disorder, dyspraxia, short stature and subtle non-specific dysmorphic features.

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Background: Acute surgical units (ASU) are increasingly being adopted and in our system are staffed by colorectal and non-colorectal general surgeons. This study aims to evaluate whether surgeon specialization was associated with improved outcomes in perianal abscess.

Methods: Patients with perianal abscess admitted to the ASU between 2016 and 2020 were identified from a prospective database and their medical records reviewed.

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ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism.

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Article Synopsis
  • Misregulation of histone lysine methylation is linked to various cancers and developmental disorders, with the gene DOT1L playing a crucial role in this process.
  • Researchers discovered nine individuals with different mutations in DOT1L, all of whom showed developmental delays and major congenital issues.
  • Functional studies in fruit flies and human cells indicated that these mutations are gain-of-function, leading to increased histone methylation and confirming DOT1L's involvement in a genetic disease.
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The broad uptake of the acute surgical unit (ASU) model of surgical care in Australia has resulted in general surgeons becoming increasingly involved in the management of patients with acute abdominal pain (AAP), some of whom will be labelled as having non-specific abdominal pain (NSAP) (Kinnear N, Jolly S, Herath M, et al. The acute surgical unit: An updated systematic review and meta-analysis. review.

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Background: Acute colonic pseudo-obstruction (ACPO) is a potentially highly morbid surgical complication. The incidence of ACPO following spinal trauma is unknown, but is likely higher than after elective spinal fusion. The purpose of this study was to establish the incidence of ACPO in patients with major trauma undergoing spinal fusion for unstable thoracic and lumbar fracture, and secondly, to characterize the nature of ACPO in this group, including treatment and complications.

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Background: Damage control surgery in trauma is widely used but the evidence for the use of laparostomy in non-trauma abdominal emergencies is limited. This study aimed to characterise outcomes in emergency abdominal surgery by comparing laparostomy to one-stage laparotomy for patients of similar illness severity.

Methods: A retrospective study of adult patients requiring emergency abdominal surgery and post-operative intensive care stay was performed between 2016 and 2020 at a major Australian metropolitan hospital.

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Introduction: Extensive research collaborations exist between high-income countries and low- and middle-income countries (LMICs), although prior work has raised concerns regarding equitable representation among LMIC authors. The goal of this bibliometric analysis was to characterize LMIC authorship among indexed orthopaedic journals and identify factors contributing to disparities in representation.

Methods: We identified all articles appearing in orthopaedic journals indexed in MEDLINE and Journal Citation Reports with a focus on LMICs or cohorts between 2009 and 2018.

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Background: This retrospective cohort study reports on overall survival and short-term complications, comparing laparoscopic to open resection for right-sided colon cancers. It is one of the largest studies in the field with generalizable population-level results.

Method: This study on right sided colon cancers used prospectively collected administrative data linked to a death registry over 5 years from 2014 to 2018.

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Background: Social disparities in cancer survival have been demonstrated in Australia despite a universal healthcare insurance system. Colorectal cancer is common, and reasons for survival disparities related to socioeconomic status need to be investigated and addressed. The aim is to evaluate the current Australian literature concerning the impact of socioeconomic status on colorectal cancer survival and stage at presentation.

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PPP1R13L-associated cardiocutaneous syndrome is an autosomal recessive condition that presents with life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype.

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While inherited hemizygous variants in PHF6 cause X-linked recessive Borjeson-Forssman-Lehmann syndrome (BFLS) in males, de novo heterozygous variants in females are associated with an overlapping but distinct phenotype, including moderate to severe intellectual disability, characteristic facial dysmorphism, dental, finger and toe anomalies, and linear skin pigmentation. By personal communication with colleagues, we assembled 11 additional females with BFLS due to variants in PHF6. We confirm the distinct phenotype to include variable intellectual disability, recognizable facial dysmorphism and other anomalies.

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Background And Objectives: Prior studies examining prognostic outcomes of locally advanced rectal adenocarcinomas achieving a complete pathological response following neoadjuvant chemoradiotherapy (nCRT) did not adjust for adverse prognostic factors in multivariate analyses and account for magnetic resonance imaging tumour staging inaccuracy pre-nCRT. We aimed to clarify prognostic outcomes in mT3 rectal adenocarcinomas with ypT-downstaging post-nCRT in robust adjusted analyses.

Methods: Retrospective analysis of prospectively-collected clinical data from 528 mT3 rectal adenocarcinomas ≤12 cm from the anal verge, any N-stage, no metastases, post-nCRT following total mesorectal excision (TME).

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Background And Objectives: Increasing lymph node harvest for right-sided colon cancer is associated with improved overall survival (OS), but most relevant studies failed to report the extent of resection. We examined the association between increasing lymph node count with standard right hemicolectomy according to nodal status and prognostic outcomes in right-sided tumors.

Methods: Retrospective analysis of prospectively collected clinical data from patients with proximal colonic adenocarcinomas (n = 1390) following right hemicolectomy.

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Background: The reporting of a locally validated kidney donor profile index (KDPI) began in Australia in 2016. Across diverse populations, KDPI has demonstrated utility in predicting allograft survival and function. A metric that incorporates both elements may provide a more comprehensive picture of suboptimal recipient outcomes.

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Background: Hospital acquired infections are common, costly, and potentially preventable adverse events. This study aimed to determine the effect of the COVID-19 pandemic-related escalation in infection prevention and control measures on the incidence of hospital acquired infection in surgical patients in a low COVID-19 environment in Australia.

Method: This was a retrospective cohort study in a tertiary institution.

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