Publications by authors named "UElle Saks"

Increasing variability down serially segmented structures, such as mammalian molar teeth and vertebrate limb segments, is a much-replicated pattern. The same phenotypic pattern has conflicting interpretations at different evolutionary scales. Macroevolutionary patterns are thought to reflect greater evolutionary potential in later-forming segments, but microevolutionary patterns are thought to reflect less evolutionary potential and greater phenotypic plasticity.

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Purpose Of Review: Recent advancements in molecular biomarkers and therapeutic options for Alzheimer's disease have brought into focus the need for greater progress in the second most common cause of dementia, vascular cognitive impairment and dementia (VCID). We examine how the study of monogenic causes of VCID has contributed to the understanding of its pathophysiology and potential biomarker and treatment research.

Recent Findings: It is widely accepted that conditions which disrupt the cerebral small vessels contribute to vascular pathologies including stroke and cerebral microbleeds, ultimately leading to vascular cognitive impairment and dementia.

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Objective: Patient reported outcome measures (PROMs) are commonly collected in melanoma research. However, they are not used to guide immediate clinical care in Australia. This study explored the views and experiences of patients with Stage III melanoma and clinic staff during implementation of an electronic Patient-Reported Outcome Measures in melanoma (ePROMs-MEL) pilot to assess distress and quality of life.

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There are few studies of impacts of arts on recovery in schizophrenia, on audience and cast responses. We developed a formative qualitative evaluation of audience and cast discussions after viewing live performances in a university setting of an opera based on Elyn Saks' journey from psychosis, teaching law and falling in love, coupled with pre-opera workshop on community approaches to resilience. Live discussions were conducted with audience, cast members, and workshop presenters after performance of the opera, with recording and transcription, and reflexive thematic qualitative analysis sequentially conducted by 3 investigators/2 event leaders).

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  • Acute myeloid leukemia (AML) with the t(7;12) translocation is common in infants and has been recognized by the WHO, although the exact mechanism behind its development is unclear.
  • A study of 12 pediatric AML cases with this translocation found no significant difference in survival rates compared to other AML types, but noted a consistent high expression of MNX1 across all cases.
  • Whole transcriptome and genome sequencing revealed various fusion transcripts, primarily involving NOM1, but emphasized the importance of MNX1's overexpression as the key driving factor in this AML subtype.
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Of the twelve cranial nerves, nine supply motor innervation to the muscles of the head and neck. Loss of this motor nerve supply, or denervation, follows a series of predictable chronologic changes in the affected muscles. Although the length of time between each change is markedly variable, denervation is typically classified into three distinct time points: acute, subacute, and chronic.

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Introduction: Historically, the requirement to produce scholarship for advancement has challenged health professions educators heavily engaged in teaching. As biomedical scientists or healthcare practitioners, few are trained in educational scholarship, and related faculty development varies in scope and quality across institutions. Currently, there is a need for faculty development and mentoring programs to support the development of these skills.

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Background: Enhanced recovery after surgery (ERAS) pathways represent a comprehensive approach to optimizing perioperative management and reducing hospital stay and cost. In living donor kidney transplantation, key impediments to postoperative discharge include pain, and opioid associated complications such as nausea, vomiting, and the return of gastrointestinal function.

Methods: In this randomized controlled trial, living kidney transplantation donors were assigned to either the ERAS or control group.

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  • * Researchers analyzed data from 108 older individuals without dementia, finding that those with the Met allele had significantly lower volumes in key brain areas related to memory and cognition compared to those with the Val/Val genotype.
  • * While the study found some correlations between visual and cognitive metrics, it concluded that the BDNF polymorphism specifically influences certain brain regions linked to aging but did not significantly affect overall cognitive performance or other brain measures.
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Introduction: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare genetic condition with a broad phenotypic presentation. This study aims to establish the first Australian cohort of individuals affected by CADASIL (AusCADASIL) and examine its clinical features and longitudinal course, and to investigate neuroimaging and blood biomarkers to assist in early diagnosis and identify disease progression.

Methods: Participants will be recruited from six study centres across Australia for an observational study of CADASIL.

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Hyperleukocytosis in pediatric acute myeloid leukemia (AML) is associated with severe complications and an inferior outcome. We report results on patients with hyperleukocytosis included in the NOPHO-DBH AML 2012 study. We recommended immediate initiation of full-dose chemotherapy (etoposide monotherapy for 5 days as part of the first course), avoiding leukapheresis and prephase chemotherapy.

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Background: Posttraumatic stress disorder (PTSD) causes heightened fight-or-flight responses to traumatic memories (i.e., hyperarousal).

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  • The study investigates the relationship between self-efficacy, goal setting, and learning outcomes, pointing out inconsistencies in prior research.
  • Data was gathered from 160 teacher training students using surveys and analysis methods to explore how self-efficacy influences grade goals and academic performance.
  • Findings reveal that higher self-efficacy positively impacts students' grade expectations, which, in turn, mediates their overall learning outcomes, emphasizing the importance of motivation in online education.
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Purpose: Measurable residual disease (MRD) by using flow cytometry after induction therapy is strongly prognostic in pediatric AML, and hematopoietic stem-cell transplant (hSCT) may counteract a poor response. We designed a phase III study with intensified response-guided induction and MRD-based risk stratification and treated poor induction response with hSCT. The efficacy of liposomal daunorubicin (DNX) in induction was compared with mitoxantrone.

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There are few studies of impacts of arts on recovery in schizphrenia, on audience mood and social connection. We developed a pilot evaluation of opera performances in a university setting on Elyn Saks' journey from psychosis, teaching law and falling in love, coupled with pre-opera workshop on approaches to resilience. Using surveys, primary outcomes were pre and post affect (PANAS-X positive, negative; visual "affect grid" touchscreen for affective valence and arousal) and social connectedness with secondary outcomes of increasing understanding, reducing stigma and willingness to socialize or serve persons with mental illness.

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An 89-year-old man presented with progressive gait disturbance, diplopia, and ataxia. Initial brain MRI demonstrated T2/FLAIR hyperintense signal abnormality in the pons extending along the middle cerebellar peduncles into the cerebellum, with associated punctate, patchy, and linear enhancement on postcontrast imaging. Initially, this was attributed to brainstem encephalitis; however, sarcoidosis, histiocytosis, and paraneoplastic/autoimmune encephalitis remained on the differential.

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  • Polycythemia vera is a chronic blood disorder leading to high red blood cell counts, and rusfertide is a treatment that mimics a hormone controlling iron levels, but its safety and effectiveness in these patients were previously unknown.
  • The REVIVE trial tested rusfertide in two parts: a 28-week dose-finding phase involving 70 patients, followed by a 12-week phase where participants received either rusfertide or a placebo.
  • Results showed that patients treated with rusfertide had significantly fewer annual phlebotomies (0.6 vs. 8.7) and a better response rate (60% vs. 17%) compared to the placebo group, along with improvements
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Cerebrovascular disease is the second most common cause of cognitive disorders, usually referred to as vascular contributions to cognitive impairment and dementia (VCID) and makes some contribution to about 70 % of all dementias. Despite its importance, research into VCID has lagged as compared to cognitive impairment due to Alzheimer's disease. There is an increasing appreciation that closing this gap requires large national and international collaborations.

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  • The joints in the lower extremity, from the lumbar spine to the foot, are closely interconnected, meaning pain in one joint can affect adjacent joints above or below it.
  • Understanding how issues in nearby joints impact hip health is essential for advising patients before hip surgeries.
  • Patients with femoroacetabular impingement syndrome and knee pain on the same side may have less favorable outcomes after hip surgery, but they can still expect significant symptom relief in both the hip and knee post-operation.
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The dynamics of excited electronic states in self-assembled structures formed between silver(I) ions and cytosine-containing DNA strands or monomeric cytosine derivatives were investigated by time-resolved infrared (TRIR) spectroscopy and quantum mechanical calculations. The steady-state and time-resolved spectra depend sensitively on the underlying structures, which change with pH and the nucleobase and silver ion concentrations. At pH ∼ 4 and low dC strand concentration, an intramolecularly folded i-motif is observed, in which protons, and not silver ions, mediate C-C base pairing.

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Recent reviews of student-as-teacher programs call for early, longitudinal, and timely training in both learning principles and applied teaching skills. We describe a longitudinal elective for pre-clerkship students that includes interactive meetings addressing a range of theoretical and practical teaching topics and the tools needed to conduct medical education research.

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Background: Opioid Use Disorder (OUD) is an escalating public health problem with over 100,000 drug overdose-related deaths last year most of them related to opioid overdose, yet treatment options remain limited. Non-invasive Vagal Nerve Stimulation (nVNS) can be delivered via the ear or the neck and is a non-medication alternative to treatment of opioid withdrawal and OUD with potentially widespread applications.

Methods: This paper reviews the neurobiology of opioid withdrawal and OUD and the emerging literature of nVNS for the application of OUD.

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People with serious mental illness (SMI) diagnoses who become pregnant are particularly vulnerable to symptom recurrence and resulting potential lack of decision-making capacity (Taylor et al. J Psychiatr Res 104:100-107, 2018; Bagadia et al. Int J Soc Psychiatry 66:792-798, 2020).

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Wild animals have been increasingly exposed to a wide range of stressors, mainly due to the intensification of human activities and habitat modifications. Consequently, new tools in order to assess the physiological and health status of wild animals have been developed. In particular, glucocorticoids have received a special attention.

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Purpose: To investigate the relationship between the apolipoprotein E (APOE) ε4 allele and retinal structural and vascular characteristics in older adult participants from several research studies. We also studied the relationship between these structural and vascular characteristics with multifocal visual evoked potential (mfVEP) indices, neuropsychological parameters and MRI brain volumes in these participants.

Methods: In this study, 109 participants with a mean (SD) age of 67.

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