Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

Developmental language disorder (DLD) is a neurodevelopmental disorder involving impaired language abilities. Its genetic etiology is heterogeneous, involving rare variations in multiple susceptibility loci. However, family-based studies on gene mutations are scarce.

Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology.

Few metrics exist to describe phenotypic diversity within ophthalmic imaging datasets, with researchers often using ethnicity as a surrogate marker for biological variability. We derived a continuous, measured metric, the retinal pigment score (RPS), that quantifies the degree of pigmentation from a colour fundus photograph of the eye. RPS was validated using two large epidemiological studies with demographic and genetic data (UK Biobank and EPIC-Norfolk Study) and reproduced in a Tanzanian, an Australian, and a Chinese dataset.

Intrahepatic levels of microbiome-derived hippurate associates with improved metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterised by lipid accumulation in the liver and is often associated with obesity and type 2 diabetes. The gut microbiome recently emerged as a significant player of liver metabolism and health through the production of bioactive compounds that are beneficial for its host - "postbiotics". Circulating hippurate, a host-microbial co-metabolite produced by conjugating microbial benzoate with glycine in the host-liver, is associated with human gut microbial gene richness and with metabolic health.

Oral Food Challenge Protocols in Food Protein-Induced Enterocolitis Syndrome: A Systematic Review.

Background: Oral Food Challenges (OFC) are essential for the diagnosis and follow-up of acute Food Protein-Induced Enterocolitis Syndrome (FPIES) because no diagnostic or prognostic biomarkers are available. However, the optimal OFC procedure remains unclear.

Objectives: This systematic review aimed to assess OFC procedures' design and clinical outcomes in patients with FPIES.

Association between adult-onset hearing loss and dementia biomarkers: A systematic review.

Background And Objective: People with adult-onset hearing loss (AoHL) are at increased dementia risk. In this study, we explore potential aetiological mechanisms by synthesising the evidence on the association between AoHL and neuropathological, cerebrospinal fluid (CSF), blood and imaging biomarkers of dementia.

Methods: We systematically searched electronic databases from inception to 30 April 2024 for cross-sectional and longitudinal studies, including quantitative data on the association between AoHL and dementia biomarkers.

Proteomic and Metabolomic Signatures in Prediabetes Progressing to Diabetes or Reversing to Normoglycemia Within 1 Year.

Objective: Progression of prediabetes to type 2 diabetes has been associated with β-cell dysfunction, whereas its remission to normoglycemia has been related to improvement of insulin sensitivity. To understand the mechanisms and identify potential biomarkers related to prediabetes trajectories, we compared the proteomics and metabolomics profile of people with prediabetes progressing to diabetes or reversing to normoglycemia within 1 year.

Research Design And Methods: The fasting plasma concentrations of 1,389 proteins and the fasting, 30-min, and 120-min post-oral glucose tolerance test (OGTT) plasma concentrations of 152 metabolites were measured in up to 134 individuals with new-onset diabetes, prediabetes, or normal glucose tolerance.

Artificial Intelligence-Enhanced Electrocardiography for Prediction of Incident Hypertension.

Importance: Hypertension underpins significant global morbidity and mortality. Early lifestyle intervention and treatment are effective in reducing adverse outcomes. Artificial intelligence-enhanced electrocardiography (AI-ECG) has been shown to identify a broad spectrum of subclinical disease and may be useful for predicting incident hypertension.

Transplant and Nontransplant Salvage Therapy in Pediatric Relapsed or Refractory Hodgkin Lymphoma: The EuroNet-PHL-R1 Phase 3 Nonrandomized Clinical Trial.

Importance: The current standard-of-care salvage therapy in relapsed/refractory classic Hodgkin lymphoma (cHL) includes consolidation high-dose chemotherapy (HDCT)/autologous stem cell transplant (aSCT).

Objective: To investigate whether presalvage risk factors and fludeoxyglucose-18 (FDG) positron emission tomography (PET) response to reinduction chemotherapy can guide escalation or de-escalation between HDCT/aSCT or transplant-free consolidation with radiotherapy to minimize toxic effects while maintaining high cure rates.

Design, Setting, And Participants: EuroNet-PHL-R1 was a nonrandomized clinical trial that enrolled patients younger than 18 years with first relapsed/refractory cHL across 68 sites in 13 countries in Europe between January 2007 and January 2013.

Dialogical and Relational Taster Training (DARTT): Service User, Carer & Public Perception.

In response to the paucity of training in therapeutic relationships and relational care for mental health clinicians, a new three-day training programme has been developed called Compassionate and Relational Enquiry (CARE). A condensed version of this training was recently delivered to mental health service users, carers and the public during a one-day online taster session- named Dialogical And Relational Taster Training (DARTT) - to understand their perception of this training programme. 21 people took part in this taster training day and subsequently completed a survey about their impression of different elements of the training.

Metagenome-assembled genomes from irradiated human dental plaque.

We provide 309 quality-controlled bacterial metagenome-assembled genomes recovered from supragingival plaque metagenomes. Samples were collected from head and neck cancer patients following radiotherapy, so the recovered genomes can be useful to investigate the effects of oral cavity irradiation on oral microbiome members.

Neuroimmune signalling pathways in chronic rhinosinusitis with nasal polyps.

Purpose Of Review: To evaluate the role of neuroimmune signalling pathways in the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP).

Recent Findings: The sinonasal mucosa is densely infiltrated by immune cells and neuronal structures that share an intimate spatial relationship within tissue compartments. Together, such neuroimmune units play a critical role in airway defence and homeostatic function.

Preclinical Development of Magnetic Nanoparticles for Hyperthermia Treatment of Pancreatic Cancer.

Pancreatic ductal adenocarcinoma (PDAC) is a very challenging disease with a very poor prognosis. It is characterized by a dense desmoplastic stroma that hampers drug penetration and limits the effectiveness of conventional chemotherapy (CT). As an alternative, the combination of CT with hyperthermia (HT) has been proposed as an innovative treatment modality for PDAC.

The evolving understanding of systemic mechanisms in organ-specific IgA nephropathy: a focus on gut-kidney crosstalk.

The interplay between multiple organs, known as inter-organ crosstalk, represents a complex and essential research domain in understanding the mechanisms and therapies for kidney diseases. The kidneys not only interact pathologically with many other organs but also communicate with other systems through various signaling pathways. It is of paramount importance to comprehend these mechanisms for the development of more efficient therapeutic strategies.

Conceptual Frameworks in Neurology Education Research.

This article discusses conceptual frameworks in neurology education research. We provide practical case examples highlighting the conceptual framework development process for different research scenarios in neurology education. We explore the steps that shape the conceptual framework process, including defining the educational problem, exploring the scholarly conversation on the topic of study through understanding the literature and outlining its gaps, constructing research questions, selecting the theoretical frameworks that underpin the study, and choosing the appropriate methodology and methods for the research questions.

Early oncological outcomes of delayed radical prostatectomy: A prospective, international, follow-up analysis of the COVIDSurg-Cancer study.

Objectives: The objective of this study is to compare the early oncological outcomes of delayed (>90 days) versus scheduled (≤90 days) radical prostatectomy (RP).

Patients And Methods: Patients with prostate cancer due to undergo surgery between March 2020 and June 2020 who were enrolled in the COVIDSurg-Cancer international, observational study were prospectively followed up for 1 year. Time to surgery was defined as the difference between the operation date and the multi-disciplinary team decision to offer surgery.

Effect of Cytoskeletal Linker Protein GAS2L1 on Oligodendrocyte and Myelin Development.

Oligodendrocytes (OLs), the myelin-forming cells of the central nervous system (CNS), develop from OL precursor cells (OPCs) through a complex process involving significant morphological changes that are critically dependent on the dynamic interactions between cytoskeletal networks. Growth arrest-specific 2-like protein 1 (GAS2L1) is a cytoskeletal linker protein that mediates the cross-talk between actin filaments and microtubules. However, its role in OL and myelin development remains unknown.

Hearing the Silence and Silenced: Co-Producing Research on Infant-Feeding Experiences and Practices With Black Women With HIV.

In the UK, up to 700 people with HIV give birth annually; the majority are Black African migrant cisgender women. Infant-feeding decisions for parents with HIV are complex, requiring parents to weigh-up the small risk of HIV transmission via breastmilk and UK guidelines recommending formula milk, against strong personal and societal expectations to breastfeed. We explored this situation in a qualitative study.

Parathyroid carcinoma: New insights.

Parathyroid carcinoma (PC) is a rare malignancy, comprising 1 % of all cases of primary hyperparathyroidism (PHPT). This narrative review explores recent advances in PC management, with a focus on molecular insights, diagnostic advancements, surgical innovations, and emerging targeted therapies. Manuscripts published between 2023 and 2024 were obtained from PubMed, EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL).