Consent to medical student teaching: an observational, cross-sectional study exploring the patient view.

Background: New Zealand guidelines stipulate that patient consent is obtained for medical student involvement in clinical care, however, patients' preferences regarding consent for medical student teaching have not been widely explored. This study examined patient preferences for consent for medical student teaching with the aim to increase patient empowerment, to optimise care and to reflect societal expectations more accurately.

Method: Observational, semi-qualitative, cross-sectional study of in-patients.

What Interventions Work to Reduce Cost Barriers to Primary Healthcare in High-Income Countries? A Systematic Review.

High-income countries like Aotearoa New Zealand are grappling with inequitable access to healthcare services. Out-of-pocket payments can lead to the reduced use of appropriate healthcare services, poorer health outcomes, and catastrophic health expenses. To advance our knowledge, this systematic review asks, "What interventions aim to reduce cost barriers for health users when accessing primary healthcare in high-income countries?" The search strategy comprised three bibliographic databases (Dimensions, Embase, and Medline Web of Science).

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia.

Background: Achondroplasia, the most prevalent skeletal dysplasia, stems from a functional mutation in the fibroblast growth factor receptor 3 gene, leading to growth impairment. This condition presents multifaceted medical, functional and psychosocial challenges throughout childhood, adolescence and adulthood. Current management strategies aim to minimise medical complications, optimise functional capabilities and provide comprehensive supportive care.

Consequences of cost barriers to prescriptions: cohort study in Aotearoa New Zealand.

Aims: A NZ$5 co-payment prescription charge was removed in July 2023 but may be reinstated. Here we quantify the health impact and cost of not being able to afford this charge.

Methods: We linked New Zealand Health Surveys (2013/2014-2018/2019) to hospitalisation data using data available in Integrated Data Infrastructure (IDI).

"Closed books": restrictions to primary healthcare access in Aotearoa New Zealand-reporting results from a survey across general practices.

Aim: In Aotearoa New Zealand, primary care is organised by enrolling patients with a primary care provider. However, the benefits of this arrangement are frustrated when providers "close their books" due to insufficient capacity for new patients. We investigated the extent, evolution and impact of this situation on health access and equity in access to primary healthcare.

Role of CAMK2D in neurodevelopment and associated conditions.

The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four different isozymes, encoded by four different genes-CAMK2A, CAMK2B, CAMK2G, and CAMK2D-of which the first three have been associated recently with neurodevelopmental disorders. CAMK2D is one of the major CAMK2 proteins expressed in the heart and has been associated with cardiac anomalies. Although this CAMK2 isoform is also known to be one of the major CAMK2 subtypes expressed during early brain development, it has never been linked with neurodevelopmental disorders until now.

Financial barriers to primary health care in Aotearoa New Zealand.

Background: In Aotearoa New Zealand, co-payments to see a general practitioner (GP, family doctor) or collect a prescription are payable by virtually all adults.

Objective: To examine the extent to which these user co-payments are a barrier to accessing health care, focussing on inequities for indigenous Māori.

Methods: Pooled data from sequential waves (years) of the New Zealand Health Survey, 2011/12 to 2018/19 were analysed.

Cohort profile: Ngā Kawekawe o Mate Korona | Impacts of COVID-19 in Aotearoa - a prospective, national cohort study of people with COVID-19 in New Zealand.

Purpose: The COVID-19 pandemic has had significant health, social and economic impacts around the world. We established a national, population-based longitudinal cohort to investigate the immediate and longer-term physical, psychological and economic impacts of COVID-19 on affected people in Aotearoa New Zealand (Aotearoa), with the resulting evidence to assist in designing appropriate health and well-being services for people with COVID-19.

Participants: All people residing in Aotearoa aged 16 years or over, who had a confirmed or probable diagnosis of COVID-19 prior to December 2021, were invited to participate.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected.

Evaluating Shared Decision-Making in Postpartum Contraceptive Counseling Using Objective Structured Clinical Examinations.

Background: Shared decision-making (SDM) may support widespread uptake of progestin-containing long-acting reversible contraceptives in the immediate postpartum period. We piloted an Objective Structured Clinical Examination (OSCE) to evaluate first-year obstetrics and gynecology resident physicians' use of SDM in postpartum contraception counseling.

Methods: As part of their 2015 and 2016 OSCEs, first-year OB/GYN residents were instructed to provide contraceptive counseling to a Standardized Patient (SP) portraying a 29-year-old postpartum patient seen during rounds on the morning following her delivery.

Australian guidelines for the management of children with achondroplasia.

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achondroplasia may experience medical complications, develop and function differently to others and require psychosocial support. International, European and American consensus guidelines have been developed for the management of achondroplasia.

Canadian perspectives in multiple myeloma on the use of steroids in clinical practice based on patient and healthcare provider interviews.

Corticosteroid (steroid) medications are associated with challenging adverse effects that can negatively impact patient quality of life. However, owing to a long legacy of effective use in treatment protocols, they remain a cornerstone of multiple myeloma (MM) care. We conducted a roundtable with Canadian healthcare providers (HCPs) with diverse healthcare backgrounds and involvement in MM care as well as with patients with MM.

Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.

Background And Objective: Individuals with intellectual disability (ID) experience protracted cognitive development compared with typical youth. Sensitive measurement of cognitive change in this population is a critical need for clinical trials and other intervention studies, but well-validated outcome measures are scarce. This study's aim was to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to detect developmental changes in groups with ID-fragile X syndrome (FXS), Down syndrome (DS), and other ID (OID)-and to provide further support for its use as an outcome measure for treatment trials.

Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations.

Missense variants in underlie neurodevelopmental conditions such as Angelman Syndrome and Autism Spectrum Disorder, but the underlying molecular pathological consequences on protein folding and function are poorly understood. Here, we report a novel, maternally inherited, likely pathogenic missense variant in (NM_000462.4(UBE3A_v001):(c.

Prosaccade and Antisaccade Behavior in Fragile X-Associated Tremor/Ataxia Syndrome Progression.

Background: Quantitative measurement of eye movements can reveal subtle progression in neurodegenerative diseases.

Objective: To determine if quantitative measurements of eye movements may reveal subtle progression of fragile X-associated tremor and ataxia (FXTAS).

Methods: Prosaccade (PS) and antisaccade (AS) behavior was analyzed in 25 controls, 57 non-FXTAS carriers, and 46 carriers with FXTAS.

A Standard Set of Value-Based Patient-Centered Outcomes and Measures of Overall Health in Adults.

Background: The definition of population-specific outcomes is an essential precondition for the implementation of value-based health care. We developed a minimum standard outcome set for overall adult health (OAH) to facilitate the implementation of value-based health care in tracking, comparing, and improving overall health care outcomes of adults across multiple conditions, which would be of particular relevance for primary care and public health populations.

Methods: The International Consortium for Health Outcomes Measurement (ICHOM) convened an international panel (patients, clinicians, and topic experts).

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.

Background: While an association between full mutation CGG-repeat expansions of the () gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55-200 repeats) of the gene may be overlooked.

Objective: To report five fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS) phenotype.

Methods: We collected medical histories and molecular measures from five cases who presented with joint hypermobility and loose connective tissue and met inclusion criteria for hEDS.

Assessing processing speed among individuals with intellectual and developmental disabilities: A match-to-sample paradigm.

Speeded Matching (SpM) is a new processing speed match-to-sample test within the NIH Toolbox Cognitive Battery. It was designed to developmentally extend feasibility to younger children or individuals with intellectual or developmental disabilities (IDD). SpM reduces cognitive demands to tapping an identical match as opposed to judging and indicating whether two stimuli are identical.

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity.

Engagement of nurse practitioners in primary health care in northern British Columbia: a mixed-methods study.

Background: Nurse practitioners (NPs) have been regulated primary care providers in British Columbia since 2005; however, many practices and contributions of NPs, especially those in northern or rural regions, remain unarticulated in primary health care. The objective of this study was to evaluate NP practices in the context of providing primary health care in northern BC.

Methods: This was a qualitative-dominant mixed-methods study.

Healthy snacks in hospitals: Testing the potential effects of changes in availability.

Background: Hospitals offer snacks for sale to patients, staff and visitors.

Aim: As food choice is heavily influenced by the options available, the present study (a) audited snack availability and purchase in NHS hospital sites across a large UK city; and (b) tested the potential effects of changes to this availability in an online choice experiment.

Methods: In Study 1 (audit), single-serve snacks (=376) available in 76 hospital food retail units were audited.