A Systematic Review Exploring the Relationship Between Family Factors and Symptom Severity, Relapse and Social or Occupational Functioning in First-Episode Psychosis.

Aims: Research on family functioning in psychosis has typically focused on specific family-related factors and their impact on symptomatology, finding strong associations between high expressed emotion and poor outcomes, especially in those with long-term illness. The objective of this review is to examine the impact of a broad range of family-related factors and their relationship with clinical, social, occupational and relational outcomes in first-episode psychosis (FEP).

Method: A systematic search of databases PsycInfo, Pubmed, Embase and CINHAL between 1990 and August 2023 was completed.

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Purpose: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising 8 with SINO and 4 with an autosomal recessive condition attributed to biallelic KIDINS220 variants.

Methods: In our international cohort, we have included 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity. While a genetic risk factor for neuropsychiatric disorders, the role of CSMD1 in neurodevelopmental disorders is unclear.

Storylines of family medicine VII: family medicine across the lifespan.

e is a 12-part series of thematically linked mini-essays with accompanying illustrations that explore the many dimensions of family medicine as interpreted by individual family physicians and medical educators in the USA and elsewhere around the world. In 'VII: family medicine across the lifespan', authors address the following themes: 'Family medicine maternity care', 'Seeing children as patients brings joy to work', 'Family medicine and the care of adolescents', 'Reproductive healthcare across the lifespan', 'Men's health', 'Care of older adults', and 'Being with dying'. May readers appreciate the range of family medicine in these essays.

Changes in Metabolic Parameters of Hemoglobin A1c, Weight, and Blood Pressure During and After COVID-19 Stay-at-Home Orders.

Background: Due to the COVID-19 pandemic, a "state of emergency" was declared in North Carolina on March 10, 2020. Subsequent "stay-at-home" (SAH) orders restricted activities including use of fitness facilities, and teleworking was encouraged. This study investigates metabolic effects of these changes in activity level.

Intellectual disability syndrome associated with a homozygous founder variant in in Ashkenazi Jews.

Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented.

Hospital response to Activity-Based Funding and price incentives: Evidence from Ireland.

Activity-Based Funding (ABF) is a funding policy incentivising hospitals to deliver more efficient care. ABF can be complemented by additional price incentives to further drive hospital efficiency. In 2016, ABF was introduced for public patients admitted to Irish public hospitals.

A Patient with a Brain Abscess Presenting as an Acute Stroke.

Unlabelled: A brain abscess is an enclosed focal infection within the brain that is either initiated by haematogenous seeding or spreads contiguously from oto-sinusitis, local trauma or neurosurgery. We describe the case of a 71-year-old man presenting with acute confusion and unilateral neurology in the absence of systemic signs of sepsis or associated laboratory biomarkers. While his initial clinical presentation mimicked an acute cerebrovascular event or brain tumour, he was subsequently diagnosed with a particularly large spherical temporal lobe brain abscess of 5 cm diameter on neuroimaging.

Essential agriculture, sacrificial labor, and the COVID-19 pandemic in the US South.

As farmworkers were reframed as "essential" workers during the COVID-19 pandemic, US growers demanded unfettered access to foreign farm labor. After initially announcing a freeze on all immigration processing, the Trump administration bowed to farmers' demands, granting a single exception for agricultural guestworkers under the H-2A visa program. Through a focus on H-2A farmworkers in Georgia, this paper highlights how the pandemic exacerbated farm labor conditions in the US South.

A comparison of four quasi-experimental methods: an analysis of the introduction of activity-based funding in Ireland.

Background: Health services research often relies on quasi-experimental study designs in the estimation of treatment effects of a policy change or an intervention. The aim of this study is to compare some of the commonly used non-experimental methods in estimating intervention effects, and to highlight their relative strengths and weaknesses. We estimate the effects of Activity-Based Funding, a hospital financing reform of Irish public hospitals, introduced in 2016.

Largest recent impact craters on Mars: Orbital imaging and surface seismic co-investigation.

Two >130-meter-diameter impact craters formed on Mars during the later half of 2021. These are the two largest fresh impact craters discovered by the Mars Reconnaissance Orbiter since operations started 16 years ago. The impacts created two of the largest seismic events (magnitudes greater than 4) recorded by InSight during its 3-year mission.

Metrics and indicators used to assess health system resilience in response to shocks to health systems in high income countries-A systematic review.

Health system resilience has never been more important than with the COVID-19 pandemic. There is need to identify feasible measures of resilience, potential strategies to build resilience and weaknesses of health systems experiencing shocks. The purpose of this systematic review is to examine how the resilience of health systems has been measured across various health system shocks.

An Interdisciplinary Approach to Müllerian Outflow Tract Obstruction Associated with Cloacal Malformation and Cloacal Exstrophy.

People with cloacal malformation and 46,XX cloacal exstrophy are at risk of developing Müllerian outflow tract obstruction (OTO). Management of OTO requires expertise of many medical and surgical specialties. The primary presenting symptom associated with OTO is cyclical and later continuous pain and can be initially quelled with hormonal suppression as a temporizing measure to allow for patient maturation.

Expandable versus Static Transforaminal Lumbar Interbody Fusion Cages: 1-year Radiographic Parameters and Patient-Reported Outcomes.

Objective: Expandable transforaminal lumbar interbody fusion (TLIF) cages capable of multidirectional in situ expansion have gained popularity as they increase axial surface area for fusion and may enhance lordotic correction through a traditional minimally invasive surgery (MIS) surgical corridor. We evaluated and compared the radiographic and clinical outcomes between a novel expandable versus static minimally invasive surgery TLIF cage for the treatment of degenerative disk disease.

Methods: A single-center retrospective review of 120 consecutive adult patients undergoing 1- or 2-level MIS TLIF with an expandable (n = 60) or static cage was performed between 2015 and 2019.

Projected private hospital expenditure in Ireland, 2018-2035: What role for demographics, cost, and Sláintecare?

Despite private hospitals occupying an important role in the delivery of acute hospital care in Ireland, an understanding of future spending pressures on these services is limited. Particularly, a key dimension of Ireland's ambitious roadmap for healthcare reform (Sláintecare) seeks to remove private practice from public hospitals. However, to date, there has been no examination of how this reform could impact private hospital demand and expenditure, and ultimately, the capacity to treat public patients.

Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.

Telomerase extends chromosome ends in somatic and germline stem cells to ensure continued proliferation. Mutations in genes critical for telomerase function result in telomeropathies such as dyskeratosis congenita, frequently resulting in spontaneous bone marrow failure. A dyskeratosis congenita mutation in TPP1 (K170∆) that specifically compromises telomerase recruitment to telomeres is a valuable tool to evaluate telomerase-dependent telomere length maintenance in mice.

Onyx™ Cast Fragmentation After Embolization of Endoleaks.

Purpose: Endoleaks are common following endovascular aneurysm repair (EVAR), and the liquid embolic material Onyx has been widely used in their treatment. We report our experience of long-term morphological changes of Onyx casts on surveillance imaging.

Materials And Methods: We identified 10 patients over 10 years who underwent Onyx embolization in our institution.

A utilisation profile of publicly financed oral examinations in the Republic of Ireland.

Aim: To develop a utilisation profile for oral examinations performed under the remit of publicly financed dental services in the Republic of Ireland as a proxy for the overall level of service use.

Basic Research Design: Collation of data from multiple administrative datasets for 2018, and generation of an age-specific oral examination utilisation profile.

Main Outcome Measure: Age-specific oral examination rates per 1,000 population.

Analytical methods to assess the impacts of activity-based funding (ABF): a scoping review.

Background: Activity-Based Funding (ABF) has been implemented across many countries as a means to incentivise efficient hospital care delivery and resource use. Previous reviews have assessed the impact of ABF implementation on a range of outcomes across health systems. However, no comprehensive review of the methods used to generate this evidence has been undertaken.

TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis.

Telomerase catalyzes chromosome end replication in stem cells and other long-lived cells. Mutations in telomerase or telomere-related genes result in diseases known as telomeropathies. Telomerase is recruited to chromosome ends by the ACD/TPP1 protein (TPP1 hereafter), a component of the shelterin complex that protects chromosome ends from unwanted end joining.

Trainee perspectives of COVID-19 impact on medical genetics education.

Purpose: The SARS-CoV-2 pandemic abruptly altered medical education and clinical care. This work evaluates trainee perspectives of the impact of the pandemic on medical genetics education.

Methods: A Qualtrics survey was sent to physician trainees who rotated in genetics before or midpandemic.

Missense variant contribution to USP9X-female syndrome.

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome.

Evaluating the Impact of Telehealth-Based, Diabetes Medication Training for Community Health Workers on Glycemic Control.

Background: Diabetes is a major contributor to morbidity and mortality. Community Health Workers (CHWs) have been instrumental in improving patient outcomes. However, CHW training largely focuses on general diabetes concepts rather than medications.