Reproductive decision-making experiences of Australian adults with neurofibromatosis type 1 and schwannomatosis.

Individuals with neurofibromatosis type 1 and schwannomatosis (NF) often face difficult reproductive choices when family planning; however, their experiences and the barriers and enablers to reproductive decision-making are poorly understood. The purpose of this study was to explore the opinions and experiences of individuals with NF in Australia and inform the development of practice recommendations and resources. Focus groups with adults with NF were conducted using a semi-structured interview schedule developed by the research team.

Perinatal mortality among term births: Informing decisions about singleton early term births in Western Australia.

Background: To minimise the risk of perinatal mortality, clinicians and expectant mothers must understand the risks and benefits associated with continuing the pregnancy.

Objectives: Report the gestation-specific risk of perinatal mortality at term.

Methods: Population-based cohort study using linked health data to identify all singleton births at gestations 37-41 weeks, in Western Australia (WA) from 2009 to 2019.

Comparing 3D imaging devices for the measurement of cutaneous neurofibromas in patients with Neurofibromatosis Type 1.

Background: Cutaneous neurofibromas (cNFs) are a major cause of disfigurement in patients with Neurofibromatosis Type 1 (NF1). However, clinical trials investigating cNF treatments lack standardised outcome measures to objectively evaluate changes in cNF size and appearance. 3D imaging has been proposed as an objective standardised outcome measure however various systems exist with different features that affect useability in clinical settings.

The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1.

The skin manifestations of neurofibromatosis 1 significantly reduce health-related quality-of-life. However, data on the utility of existing surveys in capturing neurofibromatosis 1 skin treatment outcomes are lacking. This quantitative study examined the relationship between clinician-rated severity and visibility and patient-rated itch and quality-of-life (QoL) to (1) establish baseline levels of skin- and condition-specific-related QoL, itch, depression and anxiety; (2) identify patient concerns to inform the development and evaluation of skin interventions; and (3) compare the sensitivity of different QoL measures.

Ascertainment of Aboriginal and Torres Strait Islander status for assessment of perinatal health outcomes: Reported versus derived maternal ethnicity in Western Australian pregnancy data.

Background: Under-identification of Aboriginal and Torres Strait Islander (hereafter referred to as Aboriginal) people can result in inaccurate estimation of health outcomes. Data linkage has improved identification of Aboriginal people in administrative datasets.

Aim: To compare three methods of ascertainment of Aboriginal status using only pregnancy data from the Western Australian Midwives Notification System (MNS), to the linked Indigenous Status Flag (ISF) derived by the Department of Health.

Mobility data shows effectiveness of control strategies for COVID-19 in remote, sparse and diffuse populations.

Data that is collected at the individual-level from mobile phones is typically aggregated to the population-level for privacy reasons. If we are interested in answering questions regarding the mean, or working with groups appropriately modeled by a continuum, then this data is immediately informative. However, coupling such data regarding a population to a model that requires information at the individual-level raises a number of complexities.

[TERMINATION OF PREGNANCY DUE TO FETAL ABNORMALITIES PERFORMED AFTER 24 WEEKS OF GESTATION: THE EXPERIENCE OF THE DEPARTMENT OF OBSTETRICS AND GYNECOLOGY AT SHAMIR (ASSAF HAROFE) MEDICAL CENTER BETWEEN THE YEARS 1998-2021].

Background: Termination of pregnancy is a difficult moral dilemma that provokes a discussion in the public, from an ethical, moral and religious point of view. This process is complex, especially when it comes to a fetus at a viability age (late abortion, after week 24), which requires the approval of a regional supreme committee.

Objectives: To examine the various causes of abortion both before and after the fetal viability age (24 weeks of gestation and beyond) in a singleton pregnancy, as well as to examine the sequence of events that led to a late abortion.

Making good on the promise of genomics in healthcare: the NSW Health perspective.

NSW Health is implementing genomics as a mainstream component of clinical care. The strategic, holistic approach is considering infrastructure, data governance and management, workforce, education, service planning and delivery. This work is generating insights about how to realise the promise of genomics in healthcare, highlighting the need for strong foundations, real-world application, accessibility and a focus on people using genomic information in clinical care.

Characterisation of Mid-Gestation Amniotic Fluid Cytokine and Bacterial DNA Profiles in Relation to Pregnancy Outcome in a Small Australian Cohort.

A well-established association exists between intrauterine bacteria and preterm birth. This study aimed to explore this further through documenting bacterial and cytokine profiles in Australian mid-gestation amniotic fluid samples from preterm and term births. Samples were collected during amniocenteses.

Incorporating a polygenic risk score-triaged coronary calcium score into cardiovascular disease examinations to identify subclinical coronary artery disease (ESCALATE): Protocol for a prospective, nonrandomized implementation trial.

Background: Identifying and targeting established modifiable risk factors has been a successful strategy for reducing the burden of coronary artery disease (CAD) at the population-level. However, up to 1-in-4 patients who present with ST elevation myocardial infarction do so in the absence of such risk factors. Polygenic risk scores (PRS) have demonstrated an ability to improve risk prediction models independent of traditional risk factors and self-reported family history, but a pathway for implementation has yet to be clearly identified.

Physical Activity Is Associated with Slower Cognitive Decline in Older Adults with Type 2 Diabetes.

Background: Physical activity is associated with slower cognitive decline in old age. Type 2 diabetes (T2d) is a risk factor for dementia and cognitive decline. Physical activity protects against several T2d complications.

Clinical and imaging modality factors impacting radiological interpretation of breast screening in young women with neurofibromatosis type 1.

Young women with Neurofibromatosis type 1 (NF1) have a high risk of developing breast cancer and poorer survival following breast cancer diagnosis. International guidelines recommend commencing breast screening between 30 and 35 years; however, the optimal screening modality is unestablished, and previous reports suggest that breast imaging may be complicated by the presence of intramammary and cutaneous neurofibromas (cNFs). The aim of this study was to explore potential barriers to implementation of breast screening for young women with NF1.

Current and Emerging Imaging Techniques for Neurofibromatosis Type 1-Associated Cutaneous Neurofibromas.

A consistent set of measurement techniques must be applied to reliably and reproducibly evaluate the efficacy of treatments for cutaneous neurofibromas (cNFs) in people with neurofibromatosis type 1 (NF1). cNFs are neurocutaneous tumors that are the most common tumor in people with NF1 and represent an area of unmet clinical need. This review presents the available data regarding approaches in use or development to identify, measure, and track cNFs, including calipers, digital imaging, and high-frequency ultrasound sonography.

Characterization of health concerns in people with neurofibromatosis type 1.

Background: Neurofibromatosis 1 (NF1) is a common cancer predisposition syndrome. Affected individuals require lifelong surveillance and often suffer progressive disfigurement due to cutaneous neurofibromas. The aim of this research was to characterize health concerns and quality of life (QOL) in a population cohort.

Associations between Prenatal Exposure to Phthalates and Features of the Metabolic Syndrome in Males from Childhood into Adulthood.

Phthalate metabolites are detectable within the majority of the population. Evidence suggests that a prenatal exposure to phthalates may be associated with the subsequent risks of obesity and elevated blood pressure. We hypothesised that a prenatal exposure to phthalates would lead to an increase in adverse cardiometabolic parameters through childhood and adulthood.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.

Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.

Programs offering reproductive genetic carrier screening (RGCS) to high school students within the Ashkenazi Jewish community in several countries including Canada and Australia have demonstrated high uptake and retention of educational messages over time. This study was undertaken to evaluate whether testing for an expanded number of conditions in a high school setting would impact the effectiveness of education. In this questionnaire-based study, genetic carrier testing for nine conditions was offered to 322 year 11 students from five high schools, with students attending a compulsory 1-h education session prior to voluntary testing.

Paediatric genomic testing: Navigating genomic reports for the general paediatrician.

Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines.

[PHYSIOTHERAPY TREATMENT DURING CORONA TIMES - SUMMARY AND GUIDELINES].

The World Health Organization declared that the corona virus disease (COVID 19) is a global pandemic and public health emergency, following the outbreak in Wuhan, China, in December 2019. Fever, dry cough and fatigue were the main manifestations, but the primary concern is cases that deteriorated to severe pneumonia and acute respiratory distress syndrome (ARDS). The outbreak of COVID- 19 in Israel, in March 2020 caused major changes in the routine work in hospitals.

Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Quality of Life (NF1-AdQoL) questionnaire.

Background: Neurofibromatosis Type 1 (NF1) is a variable and unpredictable multisystem genetic disorder that predisposes to medical complications, cognitive impairment and disfigurement, of all which can impact negatively upon the health-related quality of life (HRQoL) of affected adults.

Aims: To develop and validate a disease-specific HRQoL adult questionnaire to evaluate effects of NF1 from the patient's viewpoint.

Methods: The Neurofibromatosis Type 1 Adult Health-related Quality of Life questionnaire (NF1-AdQoL) was based on patient interviews (n = 8), clinician survey and questionnaire pilot study.

Measuring the Effect of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1.

Objective: In order to explore the use of Skindex scoring in patients with neurofibromatosis type 1 (NF1) across multiple clinical sites and inform design of additional quality of life measures, we analyzed correlations between Skindex, site, and clinical measures for 79 patients with NF1 from specialized clinics in Sydney, Australia (Royal North Shore Hospital [RNS]) and Minneapolis, Minnesota (University of Minnesota [UMN]).

Methods: The relationship between clinical factors and Skindex scores were explored by clinic site and overall.

Results: A total of 40 participants were recruited from RNS and 39 from UMN.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Purpose: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).

Methods: We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.

Results: We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings.

Trajectories of depression symptoms over time differ by APOE4 genotype in older adults with type 2 diabetes.

Objectives: The APOE-ε4 genotype has been associated with old-age depression, but this relationship has been rarely investigated in type 2 diabetes (T2D) older adults, who are at significantly increased risk for depression, a major contributor to T2D complications. We examined whether trajectories of depression symptoms over time differ by APOE-ε4 genotype in older adults with T2D.

Methods: Participants (n = 754 [13.