De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Enhancing Student Understanding of Cardiovascular Disease Burden in Marginalized Communities in the Physiology Classroom.

Physiology education is at the core of biomedical science and medicine. Physiology unites multiple disciplines to explain the mechanisms whereby a risk factor is associated with disease. Race, ethnicity, sexual orientation, and gender identity are associated with risk of cardiovascular disease (CVD).

Effect of Paternity Leave or Fathers' Parental Leave on Infant Health: a Systematic Review Protocol.

Objective: The objective of the systematic review will be to evaluate the effect of paternity leave or fathers' parental leave on infant mortality rate, hospitalization, vaccination compliance, and breastfeeding duration.

Introduction: Current studies indicate that paternity leave positively affects infant health, but there is a significant lack of synthesized research on its impact on key infant health indicators. A systematic review of the existing evidence will help identify best practices and guide further research and policy development in this area.

An Evidence-Based IT Program With Chatbot to Support Caregiving and Clinical Care for People With Dementia: The CareHeroes Development and Usability Pilot.

Background: There are numerous communication barriers between family caregivers and providers of people living with dementia, which can pose challenges to caregiving and clinical decision-making. To address these barriers, a new web and mobile-enabled app, called CareHeroes, was developed, which promotes the collection and secured sharing of clinical information between caregivers and providers. It also provides caregiver support and education.

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Background: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next-generation sequencing (NGS) panels, there remains a critical gap in the genetically diverse and understudied African populations.

Methods: One hundred and thirty-five South African patients affected by various IRDs underwent NGS using a custom-targeted panel sequencing over 100 known genes.

Adolescent and Parent Experiences and Perceived Effectiveness of Physical Interventions for Chronic Musculoskeletal Pain: A Qualitative Study.

Introduction: There is a paucity of evidence on the effectiveness of physical interventions for chronic musculoskeletal pain affecting adolescents. This study explored adolescent and parent experiences and perceived effectiveness of physical intervention for chronic musculoskeletal pain in the UK.

Methods: Using semi-structured interviews, 21 young people receiving treatment for chronic musculoskeletal pain and 21 parents were interviewed regarding their healthcare experiences.

Modified interteaching sessions as application-based examinations reduce student exam stress in an upper-level pathophysiology class.

Testing is a highly important tool, used ubiquitously in academia, to assess student comprehension and understanding of material. Unfortunately, the emphasis placed on test grades has resulted in a modern epidemic of test-related anxiety, which can have adverse health effects on students. Over time, novel testing strategies have been developed to more precisely assess individual skills such as remembering, analyzing, and synthesizing.

Creating diversity, equity, inclusion, and accessibility statements for your CV: a resource guide to effectiveness and comprehensiveness.

Diversity in academic medicine and research enhances the quality of the science produced and the efficacy of patient care. Diversity, equity, inclusion, and accessibility (DEIA) statements have recently been suggested or required by academic job postings as a way to measure candidate's commitments to fostering DEIA in their role. In this perspective, we discuss steps to craft effective DEIA statements that convey your actions in, and commitment to, DEIA.

Communicating safety-netting information in primary care physiotherapy consultations for people with low back pain.

Background: Safety-netting involves communicating information to patients about diagnostic uncertainty, the likely time-course of their condition and how to appropriately seek help from a healthcare professional if their condition persists or worsens. Little is known about how physiotherapists communicate safety-netting information to people with low back pain (LBP).

Objectives: This research aimed to use a Safety-Netting Coding Tool (SaNCoT) to explore how physiotherapists communicate safety-netting information to people with LBP.

A cross-sectional study evaluating grip strength and associated factors in Turkish nurses and nursing students.

Background: Grip strength is an important indicator of muscle strength. Nursing job demands physical power, which is related to their muscle strength. However, studies on nurses' grip strength remains lacking.

Bereavement care guidelines used in health care facilities immediately following perinatal loss: a scoping review.

Objective: The objective of the scoping review was to explore the evidence and describe what is known about perinatal bereavement care guidelines provided within health care facilities prior to discharge. Additionally, the review sought to identify what is known about parents' mental health outcomes, and map these outcomes to the characteristics of the bereavement care guidelines.

Introduction: Perinatal loss poses a serious risk of emotional trauma and mental health sequelae.

Supporting self-management of low back pain with an internet intervention with and without telephone support in primary care (SupportBack 2): a randomised controlled trial of clinical and cost-effectiveness.

Background: Low back pain is prevalent and a leading cause of disability. We aimed to determine the clinical and cost-effectiveness of an accessible, scalable internet intervention for supporting behavioural self-management (SupportBack).

Methods: Participants in UK primary care with low back pain without serious spinal pathology were randomly assigned 1:1:1 using computer algorithms stratified by disability level and telephone-support centre to usual care, usual care and SupportBack, or usual care and SupportBack with physiotherapist telephone-support (three brief calls).

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.

A qualitative study exploring the ritual-like activity and therapeutic relationship between Pilates teachers and clients with persistent low back pain.

Background And Purpose: Pilates is a commonly recommended exercise modality for the management of persistent low back pain. Whilst guidelines recommend the use of exercise for low back pain, research suggests that no one exercise is superior, creating a question over the mechanism of effect. The patient-practitioner relationship may be important in managing low back pain; however, the relationship between Pilates teachers and clients is not well understood.

Meaningful Clinical Outcomes for Young People and Parents When Treated for Chronic Musculoskeletal Pain in the UK: Q Set Development.

Previous studies have established a core outcome set for pediatric chronic pain clinical trials. The aim of this research was to establish which outcomes young people and parents considered important to measure during treatment for chronic musculoskeletal pain. To the best of our knowledge, this is the first study to explore which outcomes could be used to tailor interventions within a clinical setting.

SPINE20 recommendations 2023: One Earth, one family, one future WITHOUT spine DISABILITY.

Introduction: The purpose is to report on the fourth set of recommendations developed by SPINE20 to advocate for evidence-based spine care globally under the theme of "One Earth, One Family, One Future WITHOUT Spine DISABILITY".

Research Question: Not applicable.

Material And Methods: Recommendations were developed and refined through two modified Delphi processes with international, multi-professional panels.

Advice-giving skills in pre-registration physiotherapy training.

Background: With increased emphasis on self-management in healthcare, clinicians need outstanding skills in offering advice and empowering patients to attain an optimal outcome.

Objectives: This study explores how undergraduate physiotherapists acquire knowledge, skills, and confidence to offer advice to patients in clinical practice.

Methods: Convenience sampling was used to recruit 50 BSc and MSc pre-registration physiotherapy students across all years of study in one university in southern England, UK.

A Health Profile of African Immigrant Men in the United States.

African immigrants (AI) are the fastest growing group of immigrants to the U.S. however, their health and health practices remains poorly characterized.

Development and testing of a bespoke cultural intervention to support healthcare professionals with patients from a diverse background.

Objective: Development and test of a culturally sensitive intervention for rheumatology healthcare professionals (HCPs).

Methods: Using a before and after study design, 15 HCPs were recruited to undertake the bespoke intervention from four National Health Service sites across England, in areas serving a diverse population. The intervention was evaluated using two validated outcomes: (i) Patient Reported Physician Cultural Competency (PRPCC); and (ii) Patient Enablement Instrument (PEI), measuring patients' perceptions of their overall healthcare delivery.

Shared decision-making during prostate cancer consultations: Implications of clinician misalignment with patient and partner preferences.

Concepts of patient-centredness and shared decision-making inform expectations that clinicians should display sensitivity to patients' expressed preferences. This study examines the organisation of treatment-related preferences expressed by patients and their partners during clinical consultations for people with localised prostate cancer. A conversation analysis of twenty-eight diagnosis and treatment consultations was conducted with data recorded from four clinical sites across England.

"You just want someone to help": Outcomes that matter to parents when their child is treated for chronic pain.

In children's chronic pain services, healthcare decisions involve a three-way interaction between the child, their parent or guardian, and the health professional. Parents have unique needs, and it is unknown how they visualize their child's recovery and which outcomes they perceive to be an indication of their child's progress. This qualitative study explored the outcomes parents considered important, when their child was undergoing treatment for chronic pain.