A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program.

Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years' experience. Sharing experienced practitioners' professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge.

Clinical Applications of Bone Marrow CD34 Immunohistochemistry (BM CD34 IHC) Assay: International Council for Standardization in Hematology (ICSH) Guidelines.

Introduction: Investigation of bone marrow (BM) trephine biopsies and/or clot sections by CD34 immunohistochemistry (IHC) testing has been used by pathologists for several decades, and its clinical value has been well established with QBEND10 being the most frequently used primary antibody (Ab) clone. However, most other parameters related to the IHC protocol as well as the readout vary widely between clinical laboratories and in the published literature. The ICSH Working Group having reviewed the published evidence has established guidelines that will help to harmonize performance and reporting of CD34 IHC on BM biopsies.

Designing and Validating a Hereditary Spastic Paraplegia-Specific Quality of Life Rating Scale (HSPQoL).

Patients with Hereditary Spastic Paraplegia (HSP) report reduced quality of life (QoL) compared to the general population. Generic QoL measures do not address disease-specific aspects such as spasticity, access to specialty HSP clinics, and bladder symptoms. We designed and validated a HSP-specific QoL scale (HSPQoL), intended for use in standard clinical settings and clinical trials.

The effects of low-dose morphine on sleep and breathlessness in COPD: A randomized trial.

Background: Low-dose morphine may be prescribed to reduce chronic breathlessness in chronic obstructive pulmonary disease (COPD). Recent subjective findings suggest morphine may influence breathlessness through sleep-related mechanisms. However, concerns exist regarding opioid safety in COPD.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Perinatal and infant outcomes following ART treatment for endometriosis alone compared with other causes of infertility: a data linkage cohort study.

Objective: To evaluate whether perinatal and infant outcomes differ between singleton births following assisted reproductive technology (ART) in women with endometriosis alone and those with other causes of infertility.

Design: Population-based data linkage cohort study.

Subjects: A total of 29,152 ART-conceived singleton births from 24,116 mothers, 2010-2017, New South Wales, Australia.

Association Between Glycemia, Glycemic Variability, and Pregnancy Complications in Early GDM.

Objective: To investigate the association of timing of commencing glucose management with glycemia, glycemic variability, and pregnancy outcomes among women with early gestational diabetes mellitus (GDM).

Research Design And Methods: In this substudy among participants of a trial of immediate vs delayed treatment of early GDM diagnosed by 2013 World Health Organization criteria, all women treated immediately and those with delayed diagnosis at 24-28 weeks' gestation (treated as if late GDM) were instructed to monitor capillary blood glucose (BG) four times a day (fasting and 2-h postprandial) until delivery. Optimal glycemia was defined as ≥95% of BG measurements between 70 and 140 mg/dL (3.

Imlunestrant with or without Abemaciclib in Advanced Breast Cancer.

Background: Imlunestrant is a next-generation, brain-penetrant, oral selective estrogen-receptor (ER) degrader that delivers continuous ER inhibition, even in cancers with mutations in the gene encoding ERα ().

Methods: In a phase 3, open-label trial, we enrolled patients with ER-positive, human epidermal growth factor receptor 2 (HER2)-negative advanced breast cancer that recurred or progressed during or after aromatase inhibitor therapy, administered alone or with a cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor. Patients were assigned in a 1:1:1 ratio to receive imlunestrant, standard endocrine monotherapy, or imlunestrant-abemaciclib.

Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study.

The rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing.

Postpartum dysglycaemia after early gestational diabetes: Follow-up of women in the TOBOGM randomised controlled trial.

Aim: To evaluate the incidence and predictors of postpartum dysglycaemia among high-risk women who develop early gestational diabetes (eGDM) prior to 20 weeks' gestation.

Methods: This is a sub-study of the Treatment of Booking Gestational Diabetes (TOBOGM) Study, a randomised controlled trial of early or deferred treatment for women with risk factors for gestational diabetes diagnosed with eGDM, using current WHO criteria. Overt diabetes in pregnancy was excluded.

Area-Level Socioeconomic Status Impacts Health Care Visit Frequency by Australian Patients With Inflammatory Arthritis: Results From the Australian Rheumatology Association Database.

Objective: Individuals with inflammatory arthritis require long-term rheumatologist care for optimal outcomes. We sought to determine if socioeconomic status (SES) influences general practitioner (GP) and specialist physician visit frequency and out-of-pocket (OOP) visit costs.

Methods: We linked data from Australian Rheumatology Association Database (ARAD) participants with rheumatoid arthritis or psoriatic arthritis to the Pharmaceutical Benefits (PBS) and Medicare Benefits Schedule from 2011 to 2018.

What happens after menopause? (WHAM): A prospective controlled study of vasomotor symptoms and menopause-related quality of life 24 months after premenopausal risk-reducing salpingo-oophorectomy (RRSO).

Objective: To measure vasomotor symptoms and menopause-related quality of life up to 24 months after RRSO, and the effects of Menopausal Hormone Therapy (MHT).

Methods: Prospective observational study of 104 premenopausal women at elevated risk of ovarian cancer planning RRSO and age-matched comparators (n = 102) who retained their ovaries. Vasomotor symptoms and quality of life were measured using the Menopause-specific QoL Intervention (MENQOL-I) scale.

Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.

encodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.

Significant kidney disease in pregnancy: Feasibility and outcomes of a national population-based study using the Australasian Maternity Outcomes Surveillance System.

Background: Current understanding of clinical practice and care for maternal kidney disease in pregnancy in Australia is hampered by limitations in available renal-specific datasets.

Aims: To capture the epidemiology, management, and outcomes of women with significant kidney disease in pregnancy and demonstrate feasibility of a national cohort study approach.

Materials And Methods: An Australian prospective study (2017-2018) using a new kidney disease-specific survey within the Australasian Maternity Outcomes Surveillance System (AMOSS).

Psychological and emotional profiles of Australian uterine transplant potential recipients: A comparison with international trials.

Introduction: Uterus transplant (UTx) has emerged as a groundbreaking solution for individuals with uterine factor infertility (UFI). This study is the first in Australia to explore the psychosocial functioning of potential recipients assessed for the nation's initial UTx clinical trial and to compare their psychological profiles with those from international UTx trials.

Material And Methods: This is a mixed methods prospective study incorporating standardized psychological measures and semi-structured interviews.

Strain surveillance during chemotherapy to improve cardiovascular outcomes: the SUCCOUR-MRI trial.

Background And Aims: The detection of cancer therapy-related cardiac dysfunction (CTRCD) by reduction of left ventricular ejection fraction (LVEF) during chemotherapy usually triggers the initiation of cardioprotective therapy. This study addressed whether the same approach should be applied to patients with worsening of global longitudinal strain (GLS) without attaining thresholds of LVEF.

Methods: Strain surveillance during chemotherapy for improving cardiovascular outcomes (SUCCOUR-MRI) was a prospective multicentre randomized controlled trial involving 14 sites.

Effect of treatment for early gestational diabetes mellitus on neonatal respiratory distress: A secondary analysis of the TOBOGM study.

Objective: To identify factors associated with neonatal respiratory distress (NRD) in early Gestational diabetes mellitus (eGDM).

Design: Nested case-control analysis of the TOBOGM trial.

Setting: Seventeen hospitals: Australia, Sweden, Austria and India.

Asciminib monotherapy as frontline treatment of chronic-phase chronic myeloid leukemia: results from the ASCEND study.

Asciminib is a myristoyl site BCR::ABL1 inhibitor approved for patients with chronic-phase chronic myeloid leukemia (CP-CML) failing ≥2 prior lines of therapy. The Australasian Leukaemia and Lymphoma Group conducted the Asciminib Evaluation in Newly Diagnosed CML study to assess efficacy of asciminib for newly diagnosed CP-CML. Patients commenced asciminib 40 mg twice daily.

Relationship Between Early-Pregnancy Glycemia and Adverse Outcomes: Findings From the TOBOGM Study.

Objective: We evaluated associations between early-pregnancy oral glucose tolerance test (OGTT) glucose and complications in the Treatment of Booking Gestational Diabetes Mellitus (TOBOGM) cohort to inform prognostic OGTT thresholds.

Research Design And Methods: Individuals with risk factors for hyperglycemia were recruited for an international, multicenter, randomized controlled gestational diabetes mellitus (GDM) (World Health Organization 2013 criteria) treatment trial. A 2-h 75-g OGTT was performed at <20 weeks' gestation.