Maresin-like 1 Ameliorates Neuropathology of Alzheimer's Disease in Brains of a Transgenic Mouse Model.

(1) Background: Impeded resolution of inflammation contributes substantially to the pathogenesis of Alzheimer's disease (AD); consequently, resolving inflammation is pivotal to the amelioration of AD pathology. This can potentially be achieved by the treatment with specialized pro-resolving lipid mediators (SPMs), which should resolve neuroinflammation in brains. (2) Methods: Here, we report the histological effects of long-term treatment with an SPM, maresin-like 1 (MarL1), on AD pathogenesis in a transgenic 5xFAD mouse model.

Retinal Dystrophy Associated with Homozygous Variants in .

: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic Allele.

Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.

Assessment of Replicability and Efforts to Refine an Operant Conditioning Procedure for Larval Zebrafish.

The zebrafish model is rapidly advancing numerous areas of basic and translational research, including toxicology, drug discovery, molecular genetics, genomic research, developmental biology, and the study of human diseases (reviewed in [...

Single-electrode electrochemiluminescence immunosensor for multiplex detection of Aquaporin-4 antibody using metal-organic gels as coreactant.

Reliable detection of Aquaporin-4 (AQP4) antibodies is crucial for diagnosing Neuromyelitis Optica spectrum disorder (NMOSD). However, cell-based assays, the most reliable approach, are limited by inadequate instruments. This study reports the use of silver metal-organic gels (Ag-MOGs) as coreactants in a single-electrode electrochemical system (SEES)-based electrochemiluminescence (ECL) immunosensor for multiplex detection of AQP4 antibodies.

Quality, topics, and demographic trends of animal systematic reviews - an umbrella review.

Background: Animal systematic reviews are critical to inform translational research. Despite their growing popularity, there is a notable lack of information on their quality, scope, and geographical distribution over time. Addressing this gap is important to maintain their effectiveness in fostering medical advancements.

Tract-specific white matter hyperintensities and neuropsychiatric syndromes: a multicentre memory clinic study.

Background: White matter hyperintensities (WMH) have been implicated in the pathogenesis of neuropsychiatric symptoms of dementia but the functional significance of WMH in specific white matter (WM) tracts is unclear. We investigate whether WMH burden within major WM fibre classes and individual WM tracts are differentially associated with different neuropsychiatric syndromes in a large multicentre study.

Method: Neuroimaging and neuropsychiatric data of seven memory clinic cohorts through the Meta VCI Map consortium were harmonised.

Gut-brain Axis and Irritable Bowel Syndrome During the Lockdown due to the SARS-CoV-2 Pandemic: A Survey-based Study.

Background: Irritable bowel syndrome (IBS) is influenced by various factors, including socioemotional stressors. The COVID-19 lockdown created a unique environment characterized by reduced social interactions, potentially impacting IBS symptoms.

Aim: To assess how lockdown measures affected symptoms related to the gut-brain axis in IBS patients in Buenos Aires, Argentina.

Multi-view fusion of diffusion MRI microstructural models: a preterm birth study.

Objective: High Angular Resolution Diffusion Imaging (HARDI) models have emerged as a valuable tool for investigating microstructure with a higher degree of detail than standard diffusion Magnetic Resonance Imaging (dMRI). In this study, we explored the potential of multiple advanced microstructural diffusion models for investigating preterm birth in order to identify non-invasive markers of altered white matter development.

Approach: Rather than focusing on a single MRI modality, we studied on a compound of HARDI techniques in 46 preterm babies studied on a 3T scanner at term-equivalent age and in 23 control neonates born at term.

How well is the female population represented in clinical trials with infusion therapies for Parkinson's disease? A systematic review and metanalysis.

Background: Parkinson's disease (PD) is a neurodegenerative disorder affecting both sexes, but differences exist between male and female in clinical manifestations, functional impact of symptoms and hormonal influences. Therefore, representativeness of females in PD trials indirectly determines the external validity of the clinical research in this field.

Objective: To estimate the representativeness of female in infusion therapy trials for advanced PD.

Neural correlates of age-related hearing loss: An MRI and FDG-PET study.

Aim: Age-related hearing loss (ARHL) is a common problem among older adults and contributes to adverse health outcomes such as cognitive impairment. However, the neural mechanisms underlying ARHL remain unclear. We aimed to reveal the structural and metabolic (i.

A Novel RAGE Modulator Induces Soluble RAGE to Reduce BACE1 Expression in Alzheimer's Disease.

β-secretase (BACE1) is instrumental in amyloid-β (Aβ) production, with overexpression noted in Alzheimer's disease (AD) neuropathology. The interaction of Aβ with the receptor for advanced glycation endproducts (RAGE) facilitates cerebral uptake of Aβ and exacerbates its neurotoxicity and neuroinflammation, further augmenting BACE1 expression. Given the limitations of previous BACE1 inhibition efforts, the study explores reducing BACE1 expression to mitigate AD pathology.

Identification of potential therapeutic targets for Alzheimer's disease from the proteomes of plasma and cerebrospinal fluid in a multicenter Mendelian randomization study.

Background: Certain peripheral proteins are believed to be involved in the development of Alzheimer's disease (AD), but the roles of other new protein biomarkers are still unclear. Current treatments aim to manage symptoms, but they are not effective in stopping the progression of the disease. New drug targets are needed to prevent Alzheimer's disease.

Building a growing genomic repository for maternal and fetal health through the PING Consortium.

Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.

Prevalence of Hand Arm Vibration Syndrome in mine workers of Khewra salt mines.

Background: Hand-arm Vibration Syndrome (HAVS) is a disorder caused by prolonged exposure to hand-held vibrating instruments, commonly observed in industrial contexts such as mining, construction, and manufacturing. It involves symptoms affecting the musculoskeletal, neurological, and vascular systems of the arm and hand.

Purpose: The main aim of this study is to determine the prevalence of HAVS among laborers working in the Khewra salt mines.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

Ultrasonic optic nerve sheath diameter as a new predictor for the mortality of patients with large hemispheric infarction.

Large hemispheric infarction (LHI) is a severe form of stroke with high mortality and poor outcomes. Ultrasonic optic nerve sheath diameter (ONSD) is considered an effective indicator for intracranial hypertension. Our study aimed to validate the efficiency of ultrasonic ONSD and develop a nomogram to identify LHI patients who have 90-day mortality.

Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic.

Can brain network connectivity facilitate the clinical development of disease-modifying anti-Alzheimer drugs?

The preclinical phase of Alzheimer's disease represents a crucial time window for therapeutic intervention but requires the identification of clinically relevant biomarkers that are sensitive to the effects of disease-modifying drugs. Amyloid peptide and tau proteins, the main histological hallmarks of Alzheimer's disease, have been widely used as biomarkers of anti-amyloid and anti-tau drugs. However, these biomarkers do not fully capture the multiple biological pathways of the brain.

Patient- and Family-Centered Outcomes After Intensive Care Unit Admission.

Background: Family satisfaction with intensive care is a measure of patient experience and patient-centered care. Among the factors that might influence family satisfaction are the timing of patient admittance to the intensive care unit (ICU), the ICU environment, and individual health care providers.

Objective: To evaluate family satisfaction with the ICU and to explore associations between satisfaction and specific characteristics of the ICU stay.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

Scalp high-frequency oscillation spatial distribution is consistent over consecutive nights, while rates vary with antiseizure medication changes.

Objective: This study aimed to investigate two key aspects of scalp high-frequency oscillations (HFOs) in pediatric focal lesional epilepsy: (1) the stability of scalp HFO spatial distribution across consecutive nights, and (2) the variation in scalp HFO rates in response to changes in antiseizure medication (ASM).

Methods: We analyzed 81 whole-night scalp electroencephalography (EEG) recordings from 20 children with focal lesional epilepsy. We used a previously validated automated HFO detector to assess scalp HFO rates (80-250 Hz) during non-rapid eye movement (NREM) sleep.