Advancements in microsurgery: A comprehensive systematic review of artificial intelligence applications.

Machine learning (ML) is a branch of artificial intelligence (AI) that enables computers to learn from data and discern patterns without direct instruction. This review explores cutting-edge developments in microsurgery through the lens of AI applications. By analyzing a wide range of studies, this paper highlights AI's transformative role in enhancing microsurgical techniques and decision-making processes.

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.

Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).

"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.

Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers of individuals with telomere biology disorders (TBDs), which are rare genetic conditions with long diagnostic odysseys and uncertain prognoses including multiorgan system cancer risk.

Objective: This study explored internet-based information-seeking and social support practices and perspectives of patients with TBDs and their caregivers.

A multidisciplinary weight management intervention for adults with severe mental illness in forensic psychiatric inpatient services (Motiv8): a single blind cluster-randomised wait-list controlled feasibility trial.

Background: People with severe mental illness experience physical health inequalities and a 15-20-year premature mortality rate. Forensic inpatients are particularly affected by restrictions on movement, long admissions, and obesogenic/sedative psychotropic medication. We aimed to establish the feasibility and acceptability of Motiv8, a multidisciplinary weight management intervention co-produced with service users for forensic inpatients.

Cut Bodies: Unica Zürn's Agential (Sur)Realism.

This article argues that mid-century Surrealist German author Unica Zürn's writing on the fetus and pregnancy anticipates New Materialist analyses of the liveliness of matter and the interactions of biology and history. Using philosopher-physicist Karen Barad's theories of Agential Realism as a lens, I unite a close reading of key moments in Zürn's oeuvre with an examination of medical practices in the midcentury and the lingering history of Nazi eugenics, demonstrating how politics and science come to both shape and deform the body in Zürn's prose. Through the interactions of both language and material, the bodies of the mother and fetus begin to double each other, and holocaust atrocities and abortion practices take on uncanny resonances.

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

POLA2 encodes the accessory subunit of DNA polymerase α (polα)/primase, which is crucial for telomere C-strand fill-in. Incomplete fill-in of the C-rich telomeric strand after DNA replication has been proposed as a mechanism for Coats plus syndrome, a phenotype within the broader spectrum of telomere biology disorders (TBD). Coats plus syndrome has so far been associated with pathogenic variants in POT1, CTC1, and STN1.

Hyperoxia and unfavourable outcome in patients with non-traumatic subarachnoid haemorrhage: A systematic review and meta-analysis.

Background: It is common practice to administer oxygen to neurocritical patients in the Intensive Care Unit (ICU). Consequent hyperoxia has been associated with unfavourable outcomes including in patients with brain injury, after cardiac arrest, sepsis, and traumatic brain injury. The aim of this systematic review was to explore the association between hyperoxia exposure and unfavourable outcome in patients following a non-traumatic subarachnoid haemorrhage (SAH).

A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.

Background: Medical uncertainty may cause distress and challenge medical decision-making for patients with rare diseases and their caregivers. Few studies have examined the experience and management of medical uncertainty in rare disease and the dynamics of multiple medical uncertainty sources, issues, and management strategies.

Objective: We explored the experience and management of uncertainty in individuals with telomere biology disorders (TBDs), a set of rare cancer-prone bone marrow failure syndromes, and their caregivers.

An international core outcome set for primary progressive aphasia (COS-PPA): Consensus-based recommendations for communication interventions across research and clinical settings.

Introduction: Interventions to treat speech-language difficulties in primary progressive aphasia (PPA) often use word accuracy as a highly comparable outcome. However, there are more constructs of importance to people with PPA that have received less attention.

Methods: Following Core Outcome Set Standards for Development Recommendations (COSSTAD), this study comprised: Stage 1 - systematic review to identify measures; Stage 2 - consensus groups to identify important outcome constructs for people with PPA (n = 82) and care partners (n = 91); Stage 3 - e-Delphi consensus with 57 researchers.

Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.

Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin complex genes that lead to excessive telomere elongation and increased cellular replicative capacity.

Overcoming clinical BCR-ABL1 compound mutant resistance with combined ponatinib and asciminib therapy.

BCR-ABL1 compound mutations can lead to resistance to ABL1 inhibitors in chronic myeloid leukemia (CML), which could be targeted by combining the ATP-site inhibitor ponatinib and the allosteric inhibitor asciminib. Here, we report the clinical validation of this approach in a CML patient, providing a basis for combination therapy to overcome such resistance.

Exploring the everyday impacts and memory intervention needs of people with transient epileptic amnesia: A qualitative study.

People with transient epileptic amnesia (TEA) experience deficits in memory, however, little is known about their everyday experience of this, and no memory intervention studies have been conducted within this group. Using a two-part qualitative method, this study explored the lived experience of people with TEA and possible avenues for memory intervention. Fourteen people with TEA participated in either a focus group ( = 7) or an online survey ( = 7) to answer questions regarding their memory difficulties, impact on their lives, and strategies to mitigate these problems.

Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.

Severe aplastic anaemia (SAA) is a rare and life-threatening bone marrow failure disorder. We used data from the transplant outcomes in aplastic anaemia study to characterize mosaic chromosomal alterations (mCAs) in the peripheral blood of 738 patients with acquired SAA and evaluate their associations with telomere length (TL) and survival post-haematopoietic cell transplant (HCT). The median age at HCT was 20.