A missense mutation in the gene in a patient with autism spectrum disorder and epilepsy.

The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.

Optical tweezers in biomedical research - progress and techniques.

Optical tweezers, which leverage the forces exerted by radiation pressure, have emerged as a pivotal technique for precisely manipulating and analyzing microscopic particles. Since Arthur Ashkin's ground-breaking work in the 1970s and the subsequent development of the single-beam optical trap in 1986, the capabilities of optical tweezers have expanded significantly, enabling the intricate manipulation of biological specimens at the micro- and nanoscale. This review elucidates the foundational principles of optical trapping and their extensive applications in the biomedical sciences.

Replicating the Expected and the Unexpected: Neuropsychological and Symptom Profiles in a Neurotypical Romanian-English Bilingual Sample.

Establishing the effect of limited English proficiency (LEP) on cognitive performance within linguistically diverse populations is central to cross-cultural neuropsychological assessments. The present study was designed to replicate previous research on cognitive profiles in Romanian-English bilinguals. Seventy-six participants (54 women, MAge = 23.

Health-related quality of life in chronic stroke: Translation and validation of the Romanian stroke and aphasia quality of life scale-39 g (RO-SAQOL-39 g) questionnaire.

In the clinical context of stroke, health-related quality of life (HRQOL) is a crucial patient-reported outcome measure that is frequently used to assess the effectiveness of neurorehabilitation programs. Despite its significance, the absence of a stroke-specific quality-of-life instrument translated into Romanian and validated for use in Romanian stroke patients, including those with aphasia, presents a notable gap in current research. This study briefly describes the translation and cross-cultural adaptation of the Stroke and Aphasia Quality of Life Scale-39 g (SAQOL-39 g) into Romanian (RO-SAQOL-39 g).

Copeptin as biomarker for acute ischemic stroke prognosis and revascularization treatment efficacy.

Introduction: Pro-arginine vasopressin consists of three peptides: . AVP is released by the neurohypophysis in response to increased plasma osmolality, decreased blood volume and stress. Copeptin has the advantage of being stable ex vivo and easy to measure.

Assessing local service providers' needs for scaling up MHPSS interventions for Ukrainian refugees: Insights from Poland, Slovakia, and Romania.

Providing Mental Health and Psychosocial Support interventions (MHPSS) for forcibly displaced Ukrainians in Central and Eastern Europe poses numerous challenges due to various socio-cultural and infrastructural factors. This qualitative study explored implementation barriers reported by service providers of in-person and digital MHPSS for Ukrainian refugees displaced to Poland, Romania and Slovakia due to the war. In addition, the study aimed to generate recommendations to overcome these barriers.

Vitamin D and COVID-19: comparative analysis with other respiratory infections and impact of comorbidities.

Introduction: The COVID-19 pandemic has promoted an intensive investigation into the pathophysiological mechanisms of SARS-CoV-2 infection, risk factors, and its impact on disease severity. Vitamin D has generated significant attention for its potential role in viral prevention and immune defense due to its pleiotropic functions, including immunomodulation and antimicrobial effects. This study aimed to assess serum 25(OH)D3 levels in patients with COVID-19 compared to those with other viral respiratory infections and to evaluate associations of vitamin D levels with symptomatology, clinical characteristics, presence of comorbidities and laboratory investigation.

Synthesizing and assessing influenza vaccine evidence: Strengths and limitations of the recent ECDC report on the effectiveness of new and enhanced influenza vaccines. Communication on: the "European Centre for Disease Prevention and Control. Systematic review update on the efficacy, effectiveness and safety of newer and enhanced seasonal influenza vaccines for the prevention of laboratory confirmed influenza in individuals aged 18 years and over. Stockholm: ECDC; 2024".

High quality research is critical for evidence-based decision making in public health and fundamental to maintain progress and trust in immunization programs in Europe. In 2024 the European Centre for Disease Prevention and Control (ECDC) conducted an update of the 2020 systematic review to capture more recent evidence on of the efficacy, effectiveness of influenza vaccines in individuals aged 18 years and older in the prevention of laboratory-confirmed influenza. While this report was highly anticipated due to the strength of the protocol and processes put in place, during our assessment, we expressed two chief concerns.

In vivo systemic vancomycin determination from polymethyl methacrylate and morselized bone allograft used in two stage septic knee revision arthroplasty.

Introduction: This paper examines the use of local antibiotic therapy in one-stage septic revision surgery for late periprosthetic joint infections (PJIs). This case study suggests that morselized bone allografts impregnated with antibiotics in powder form are a preferable alternative to polymethyl methacrylate (PMMA) because they can generate higher local antibiotic concentrations. Current research also recommends using vancomycin and aminoglycosides as the preferred choice of antibiotics, as they may have low diffusion in tissues when administered intravenously, but are effective when administered locally.

Crystal structure and Hirshfeld surface analysis of the layered hybrid metal halide poly[bis-(2-iodoethyl-ammonium) [di-μ-iodido-di-iodido-germanate(II)]].

The title compound is a germanium-based hybrid metal halide that represents a less-toxic alternative to more popular lead-based analogues in optoelectronic applications. {(2-ICHNH)[GeI]} is composed of infinite inorganic layers that are formed by [GeI] octa-hedra connected in a corner-sharing manner with four equatorial I atoms. The organic (2-ICHNH) cations inter-leave the inorganic layers.

Crystal structure of -poly[bis-(,-di-methyl-hydroxyl-ammonium) [di-μ-bromido-di-bromido-stannate(II)]].

The title compound, {(CHNO)[SnBr]} , is a layered hybrid perovskite crystallizing in the monoclinic space group 2/. The asymmetric unit consists of one HC-O-NH -CH cation (MeHA), one Sn atom located on a twofold rotation axis, and two Br atoms. The Sn atom has a distorted octa-hedral coordination environment formed by the bromido ligands.

The effectiveness of balneotherapy on pain, walking, and function in patients with diabetic neuropathy: a prospective observational study.

The treatment of type 2 diabetes patients with diabetic neuropathy using pharmacological and non-pharmacological measures remains a current topic. The aim of this study is to evaluate the effect of comprehensive medical rehabilitation programs that include natural therapeutic factors (carbonated natural mineral water) on pain, gait, and functional status in these patients. Fifty patients diagnosed with type 2 diabetes and diabetic neuropathy in the lower limbs participated in the study.

Advancements in diagnosing Post-concussion Syndrome: insights into epidemiology, pathophysiology, neuropathology, neuroimaging, and salivary biomarkers.

Post-Concussion Syndrome (PCS) represents a complex constellation of symptoms that persist following a concussion or mild traumatic brain injury (mTBI), with significant implications for patient care and outcomes. Despite its prevalence, diagnosing PCS presents considerable challenges due to the subjective nature of symptoms, the absence of specific diagnostic tests, and the overlap with other neurological and psychiatric conditions. This review explores the multifaceted diagnostic challenges associated with PCS, including the heterogeneity of symptom presentation, the limitations of current neuroimaging techniques, and the overlap of PCS symptoms with other disorders.

Platinum(II/IV) complexes with -substituted carboxylate ethylenediamine/propylenediamine ligands: preparation, characterization and activity.

The synthesis and characterization of novel platinum(II) and platinum(IV) complexes derived from unsymmetrical ethylene or propylenediamine derivatives are presented. IR spectroscopy and ESI mass spectrometry techniques were employed to characterize the complexes, revealing distinctive absorption bands and isotope patterns. Furthermore, the complexes were characterized by H and C NMR spectroscopy.

New Record of Rhipicephalus fulvus (Neumann, 1913) from Goats and Sheep in Northeastern Algeria After more than a Century.

Purpose: Tick diversity in Algeria has garnered increasing interest due to its implications for animal health and zoonotic diseases. Recent reports of abnormal ulcerative lesions in goats and sheep in the Cheria region of northeastern Algeria have raised concerns about a potential association with tick infestations. The aim of this study is to hypothesize the potential involvement of ticks in these unusual lesions.

Eutrophication triggered changes in network structure and fluxes of the Comacchio Lagoon (Italy).

Coastal lagoons, which cover about 13% of coastline, are among the most productive ecosystems worldwide. However, they are subject to significant stressors, both natural and anthropogenic, which can alter ecosystem services and functioning and food web structure. In the Comacchio Lagoon (Northern Italy), eutrophication, among other minor factors, transformed the ecosystem in the early 1980s.

Clinical management of female patients with Fabry disease based on expert consensus.

Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype.

The effect of general versus spinal anesthesia on perioperative innate immune function in patients undergoing total hip arthroplasty.

Background: Increasing evidence shows that postoperative innate immune dysregulation is associated with delayed recovery and infectious complications. The aim of this study was to compare the effects of general versus spinal anesthesia on innate immune function during and after total hip arthroplasty (THA).

Methods: This comparative matched cohort study used data from two single-center randomized-controlled trials.

Neuropsychiatric Burden of SARS-CoV-2: A Review of Its Physiopathology, Underlying Mechanisms, and Management Strategies.

The COVID-19 outbreak, caused by the SARS-CoV-2 virus, was linked to significant neurological and psychiatric manifestations. This review examines the physiopathological mechanisms underlying these neuropsychiatric outcomes and discusses current management strategies. Primarily a respiratory disease, COVID-19 frequently leads to neurological issues, including cephalalgia and migraines, loss of sensory perception, cerebrovascular accidents, and neurological impairment such as encephalopathy.

Local Lidocaine-Prilocaine for Immunisation in Infants.

: Lidocaine-prilocaine cream effectively reduces vaccination pain, improving vaccination adherence and advocating for its routine use in healthcare settings. : This review used PRISMA guidelines and the PICOT format to structure the analysis. The focus was on paediatric patients aged 0-12 months requiring intramuscular vaccinations, comparing the application of lidocaine-prilocaine cream to other interventions or no treatment.

Respiratory Syncytial Virus: A WAidid Consensus Document on New Preventive Options.

Respiratory syncytial virus (RSV) is a leading cause of respiratory infections, particularly affecting young infants, older adults, and individuals with comorbidities. : This document, developed as a consensus by an international group of experts affiliated with the World Association of Infectious Diseases and Immunological Disorders (WAidid), focuses on recent advancements in RSV prevention, highlighting the introduction of monoclonal antibodies (mAbs) and vaccines. : Historically, RSV treatment options were limited to supportive care and the monoclonal antibody palivizumab, which required multiple doses.

Optimizing Correction Factors on Color Differences for Automotive Painting Services.

Currently, the automotive sector is showing increased demands regarding the color of cars in general, but especially the quality and the time of painting, in particular. Companies working in this industry, especially in specialized painting services, must perform work of impeccable quality in the shortest possible time in order to be efficient. Color differences that appear in different areas of the car result from the use of different formulas for obtaining color.

Understanding the Interaction of Röntgen Radiation Employed in Computed Tomography/Cone Beam Computed Tomography Investigations of the Oral Cavity by Means of Surface-Enhanced Raman Spectroscopy Analysis of Saliva.

The use of Raman spectroscopy, particularly surface-enhanced Raman spectroscopy (SERS), offers a powerful tool for analyzing biochemical changes in biofluids. This study aims to assess the modifications occurring in saliva collected from patients before and after exposure to cone beam computed tomography (CBCT) and computed tomography (CT) imaging. SERS analysis revealed significantly amplified spectra in post-imaging samples compared to pre-imaging samples, with pronounced intensification of thiocyanate and opiorphin bands, which, together with proteins, dominated the spectra.