Unveiling the influences of prenatal and maternal factors on the journey of an autistic child.

Background: Autism Spectrum Disorder (ASD) is a complex lifelong neurodevelopmental disorder with a high and increasing global prevalence. Although the precise causes are unknown, both genetic and environmental factors, including maternal ones during pregnancy, significantly influence its development. Therefore, this study endeavors to explore the potential causes of autism, including maternal and paternal prenatal risk factors, as well as antenatal and natal maternal risk factors, and their associations with the severity of ASD in mothers of children with ASD, from February to May 2024.

Subthalamic nucleus versus globus pallidus internus deep brain stimulation in the treatment of dystonia: A systematic review and meta-analysis of safety and efficacy.

Objective: This systematic review and meta-analysis aimed to compare the efficacy and safety of deep brain stimulation (DBS) targeting subthalamic nucleus (STN) versus the globus pallidus internus (GPI) in the treatment of dystonia.

Methods: A comprehensive search strategy was implemented up to July 2024, across five databases, identifying studies relevant to STN-DBS and GPI-DBS in dystonia. Eligibility criteria included randomized controlled trials (RCTs) and observational studies comparing the two interventions.

Efficacy and safety of transcranial direct current stimulation (tDCS) in treatment of refractory epilepsy: an updated systematic review and meta-analysis of randomized sham-controlled trials.

Despite the currently available treatment, one-third of epilepsy patients continue to experience seizures. Transcranial direct current stimulation (tDCS) has emerged as a potential neuromodulation approach for the non-invasive treatment of refractory epilepsy. This study aims to provide a comprehensive investigation of the efficacy and safety of tDCS in patients with drug-resistant epilepsy.

Meta-analysis accelerator: a comprehensive tool for statistical data conversion in systematic reviews with meta-analysis.

Background: Systematic review with meta-analysis integrates findings from multiple studies, offering robust conclusions on treatment effects and guiding evidence-based medicine. However, the process is often hampered by challenges such as inconsistent data reporting, complex calculations, and time constraints. Researchers must convert various statistical measures into a common format, which can be error-prone and labor-intensive without the right tools.

Safety and efficacy of unilateral focused ultrasound pallidotomy on motor complications in Parkinson's disease (PD): a systematic review and meta-analysis.

To systematically review and conduct a meta-analysis to evaluate the safety and efficacy of the unilateral focused ultrasound (FUS) pallidotomy on motor complications in Parkinson's disease (PD) patients. A comprehensive search strategy was implemented through August 15, 2023, and updated on February 13, 2024, across six databases, identifying studies relevant to unilateral focused ultrasound pallidotomy and PD. Eligibility criteria included observational studies, clinical trials, and case series reporting on the impact of the intervention on motor complications in PD patients.

Phosphodiesterase-5 inhibitors use and the risk of alzheimer's disease: a systematic review and meta-analysis.

Background: The management of Alzheimer's disease (AD) poses considerable challenges, necessitating the pursuit of innovative therapeutic approaches. Recent research has spotlighted the promising role of phosphodiesterase type 5 inhibitors (PDE5Is) in reducing the prevalence of AD, utilizing their vasodilatory properties to suggest a potential neuroprotective effect. This meta-analysis and systematic review aims to assess the relationship between the use of PDE5Is and the risk of AD.

Exploring predictors and prevalence of postpartum depression among mothers: Multinational study.

Background: Postpartum depression (PPD) affects around 10% of women, or 1 in 7 women, after giving birth. Undiagnosed PPD was observed among 50% of mothers. PPD has an unfavorable relationship with women's functioning, marital and personal relationships, the quality of the mother-infant connection, and the social, behavioral, and cognitive development of children.

Risk of Stroke Among HIV Patients: A Systematic Review and Meta-analysis of Global Studies and Associated Comorbidities.

Background: Despite advancements in the management of HIV infection, the factors contributing to stroke development among HIV-positive individuals remain unclear. This systematic review and meta-analysis aim to identify and evaluate the relative risk factors associated with stroke susceptibility in the HIV population.

Methods: A comprehensive search was conducted in PubMed, Scopus, and Web of Science databases to identify studies investigating the risk of stroke development in HIV patients and assessing the role of different risk factors, including hypertension, diabetes, dyslipidemia, smoking, sex, and race.

Human Amniotic Membrane for Dural Repair and Duraplasty: A Systematic Review of Safety and Efficacy.

The use of human amniotic membrane (HAM) has recently gained attention as a promising alternative option for duraplasty due to its superior tensile strength, elasticity, and anti-inflammatory and anti-fibrotic properties, offering greater durability and reliability compared to autologous grafts like the muscle fascia and pericranium. This systematic review aimed to evaluate the complications associated with duraplasty using HAM. We comprehensively searched the PubMed, Scopus, and Web of Science databases for studies on duraplasty with HAM.

Artificial microRNA suppresses C9ORF72 variants and decreases toxic dipeptide repeat proteins in vivo.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons, causing progressive muscle weakness and respiratory failure. The presence of an expanded hexanucleotide repeat in chromosome 9 open reading frame 72 (C9ORF72) is the most frequent mutation causing familial ALS and frontotemporal dementia (FTD). To determine if suppressing expression of C9ORF72 gene products can reduce toxicity, we designed a set of artificial microRNAs (amiRNA) targeting the human C9ORF72 gene.

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.

A GGGGCC hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), fatal neurodegenerative diseases with no cure or approved treatments that substantially slow disease progression or extend survival. Mechanistic underpinnings of neuronal death include C9ORF72 haploinsufficiency, sequestration of RNA-binding proteins in the nucleus, and production of dipeptide repeat proteins. Here, we used an adeno-associated viral vector system to deliver CRISPR/Cas9 gene-editing machineries to effectuate the removal of the HRE from the C9ORF72 genomic locus.

Evaluating an automated machine learning model that predicts visual acuity outcomes in patients with neovascular age-related macular degeneration.

Purpose: Neovascular age-related macular degeneration (nAMD) is a major global cause of blindness. Whilst anti-vascular endothelial growth factor (anti-VEGF) treatment is effective, response varies considerably between individuals. Thus, patients face substantial uncertainty regarding their future ability to perform daily tasks.

Automated deep learning in ophthalmology: AI that can build AI.

Purpose Of Review: The purpose of this review is to describe the current status of automated deep learning in healthcare and to explore and detail the development of these models using commercially available platforms. We highlight key studies demonstrating the effectiveness of this technique and discuss current challenges and future directions of automated deep learning.

Recent Findings: There are several commercially available automated deep learning platforms.

Surgical prioritization of obstetrics and gynecology procedures in the UK during the COVID-19 pandemic.

Guidelines to aid restoration of surgical procedures whilst balancing COVID‐19 risk must be accompanied by medico‐legal guidance for doctors and individual holistic assessment for patients.

Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.

Background: The C9ORF72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two fatal age-related neurodegenerative diseases. The C9ORF72 expansion encodes five dipeptide repeat proteins (DPRs) that are produced through a non-canonical translation mechanism. Among the DPRs, proline-arginine (PR), glycine-arginine (GR), and glycine-alanine (GA) are the most neurotoxic and increase the frequency of DNA double strand breaks (DSBs).

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions.

C9ORF72 repeat expansion is the most common genetic mutation in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Abnormal dipeptide repeat proteins (DPRs) generated from repeat-associated non-AUG (RAN) translation of repeat-containing RNAs are thought to be pathogenic; however, the mechanisms are unknown. Here we report that (GR)80 and (PR)80 are toxic in neuronal and non-neuronal cells in Drosophila.

Activated Cdc42 kinase regulates Dock localization in male germ cells during Drosophila spermatogenesis.

Deregulation of the non-receptor tyrosine kinase ACK1 (Activated Cdc42-associated kinase) correlates with poor prognosis in cancers and has been implicated in promoting metastasis. To further understand its in vivo function, we have characterized the developmental defects of a null mutation in Drosophila Ack, which bears a high degree of sequence similarity to mammalian ACK1 but lacks a CRIB domain. We show that Ack, while not essential for viability, is critical for sperm formation.